Spreadsheet: 09a56de1-0e58-47ba-a24b-5ebd1e77ee08
Sheet: Sheet1

GENE SYMBOL | ENSEMBL | ENTREZ-ID | GENE ALIAS | MAP POSITION | SWISSPROT-ID | [NAME] | [NAME] | [NAME] | PROTEIN COMPLEX | OMIM GENE | OMIM DISEASE
AASS | ENSG00000008311 | 10157 | LKR/SDH;LKRSDH;LORSDH | 7q31.3 | Q9UDR5 | Alpha-aminoadipic semialdehyde synthase, mitochondrial precursor (LKR/SDH) | [NAME] | 10775527 |  | 605113 | Hyperlysinemia-[238700];Saccharopinuria-[268700]
ABAT | ENSG00000183044 | 18 | GABA-AT;GABAT;NPD009 | 16p13.2 | P80404 | 4-aminobutyrate aminotransferase, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 9923979 |  | 137150 | Deficiency-of-GABA-transaminase-[137150];Susceptibility-for-autism-[209850]
ABCB7 | ENSG00000131269 | 22 | ABC7;ASAT;Atm1p;EST140535 | Xq12-q13 | O75027 | ATP-binding cassette, sub-family B, member 7, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 10196363;9883897 |  | 300135 | Sideroblastic-anemia-and-spinocerebellar-ataxia-(ASAT)-[301310]
ABCD1 | ENSG00000101986 | 215 | ABC42;ALD;ALDP;AMN | Xq28 | P33897 | Adrenoleukodystrophy protein (ALDP) | Mitochondria-related;Peroxisome | 12509471 |  | 300371 | Adrenoleukodystrophy-(ALD)-[300100]
ACADL | ENSG00000115361 | 33 | ACAD4;LCAD | 2q34-q35 | P28330 | Acyl-CoA dehydrogenase, long-chain specific, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 7551821 |  | 609576 | LCAD-deficiency-[201460]
ACADM | ENSG00000117054 | 34 | ACAD1;MCAD;MCADH | 1p31 | P11310 | Acyl-CoA dehydrogenase, medium-chain specific, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 1731887 |  | 607008 | MCAD-deficiency-[201450]
ACADS | ENSG00000122971 | 35 | ACAD3;SCAD | 12q22-qter | P16219 | Acyl-CoA dehydrogenase, short-chain specific, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 9582344 |  | 606885 | SCAD-deficiency-[201470]
ACADSB | ENSG00000196177 | 36 | 2-MEBCAD;ACAD7;SBCAD | 10q26.13 | P45954 | Acyl-CoA dehydrogenase, short/branched chain specific, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 7698750 |  | 600301 | 2-alpha-methylbutyryl-CoA-dehydrogenase-deficiency-(SBCADD)-[610006]
[NAME] | ENSG00000072778 | 37 | ACAD6;LCACD;VLCAD | 17p13-p11 | P49748 | Acyl-CoA dehydrogenase, very-long-chain specific, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 7668252 |  | 609575 | VLCAD-deficiency-[201475]
[NAME] | ENSG00000075239 | 38 | ACAT;MAT;T2;THIL | 11q22.3-q23.1 | P24752 | Acetyl-CoA acetyltransferase, mitochondrial precursor | [NAME] | 1979337 |  | 607809 | Alpha-methylacetoacetic-aciduria-(MAT)-[203750]
ACSL4 | ENSG00000068366 | 2182 | ACS4;FACL4;LACS4;MRX63;MRX68 | Xq22.3-q23 | [NAME] | Long-chain-fatty-acid-CoA ligase 4 | Microsome;Mitochondria;Mitochondrial-outer-membrane;Peroxisome | 11889465 |  | 300157 | Mental-retardation-X-linked-(MRX63)-[300387]
ACSL6 | ENSG00000164398 | 23305 | ACS2;FACL6;FLJ16173;KIAA0837;LACS2;LACS5 | 5q31 | Q9UKU0 | Long-chain-fatty-acid-CoA ligase 6 | Microsome;Mitochondria;Mitochondrial-outer-membrane;Peroxisome | 10548543 |  | 604443 | Acute-myelogenous-leukemia-(AML)-with-eosinophilia;Acute-eosinophilic-leukemia-(AEL)-[604443]
AGXT | [NAME] | 189 | AGT;AGT1;AGXT1;PH1;SPAT;SPT;TLH6 | 2q36-q37 | P21549 | Serine-pyruvate aminotransferase | Mitochondria;Mitochondrial-matrix;Peroxisome | 1703535 |  | 604285 | Primary-hyperoxaluria-type-I-(PH-I)-[259900]
ALAS2 | ENSG00000158578 | 212 | [NAME] | Xp11.21 | P22557 | 5-aminolevulinic acid synthase, erythroid-specific, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 10727444 |  | 301300 | X-linked-sideroblastic-anemia-(XLSA)-[301300]
ALDH18A1 | ENSG00000059573 | 5832 | GSAS;MGC117316;P5CS;PYCS | 10q24.3 | P54886 | Delta 1-pyrroline-5-carboxylate synthetase (P5CS) | Mitochondria;Mitochondrial-inner-membrane | 10037775;15517380 |  | 138250 | Delta-1-pyrroline-5-carboxylate-synthetase-deficiency-(P5CS)-[138250]
ALDH2 | ENSG00000111275 | 217 | ALDH-E2;ALDHI;ALDM;MGC1806 | 12q24.2 | P05091 | [NAME] dehydrogenase, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 7910607 |  | 100650 | Acute-alcohol-intolerance-(AAI)-[100650];Uterine-leiomyoma-(UL)-[150699];Involutional-osteoporosis-[166710]
ALDH4A1 | ENSG00000159423 | 8659 | ALDH4;P5CD;P5CDh;P5CDhL;P5CDhS | 1p36 | P30038 | Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 8621661 |  | 606811 | Hyperprolinemia-type-II-(HP-II)-[239510]
ALDH5A1 | ENSG00000112294 | 7915 | SSADH;SSDH | 6p22.2-p22.3 | P51649 | Succinate semialdehyde dehydrogenase, mitochondrial precursor | [NAME] | 12527414 |  | 610045 | Succinic-semialdehyde-dehydrogenase-deficiency-(SSADH)-[271980]
ALDH6A1 | ENSG00000119711 | 4329 | MGC40271;MMSADHA;MMSDH | 14q24.3 | Q02252 | Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial precursor | [NAME] | 1527093 |  | 603178 | Methylmalonate-semialdehyde-dehydrogenase-deficiency-(MMSDHD)-[603178]
AMACR | ENSG00000082196 | 23600 | RACE | 5p13 | Q9UHK6 | Alpha-methylacyl-CoA racemase | Mitochondria;Peroxisome | 7649182;10770938;11060359 |  | 604489 | Prostate-cancer-[176807];Alpha-methylacyl-CoA-racemase-deficiency-(AMACRD)-[604489]
AMT | ENSG00000145020 | 275 | GCE;GCST;NKH | 3p21.2-p21.1 | P48728 | Aminomethyltransferase, mitochondrial precursor | [NAME] | 8188235 | Glycine-cleavage-system-complex-(GCC) | 238310 | Glycine-encephalopathy-(GCE)-[605899]
ATP7B | ENSG00000123191 | 540 | [NAME] | 13q14.3 | P35670 | Copper-transporting ATPase 2 | Cytoplasm;Golgi-apparatus;Membrane;Mitochondria | 9600907 |  | 606882 | Wilson-disease-(WD)-[277900]
ATPAF2 | ENSG00000171953 | 91647 | ATP12;ATP12p;LP3663;MGC29736 | 17p11.2 | Q8N5M1 | ATP synthase mitochondrial F1 complex assembly factor 2 | [NAME] | 14757859 | Respiratory-chain-complex-V-(RCCV);RCCV-assembly | 608918 | ATPAF2-deficiency-[604273]
AUH | ENSG00000148090 | 549 | - | 9q22.31 | Q13825 | Methylglutaconyl-CoA hydratase, mitochondrial precursor | [NAME] | 12434311 |  | 600529 | 3-methylglutaconic-aciduria-type-I-(MGAI)-[250950]
BAX | ENSG00000087088 | 581 | Bax zeta | 19q13.3-q13.4 | Q07812 | Apoptosis regulator BAX, membrane isoform alpha | Cytoplasm;Membrane;Mitochondria;Mitochondrial-outer-membrane;Nucleus | 11402069 |  | 600040 | Colorectal-cancer-(CRC)-[114500];Gastric-cancer-[137215];Acute-lymphoblastic-leukemia-(ALL)-[600040]
BCKDHA | ENSG00000142046 | 593 | FLJ45695;MSU;MSUD1 | 19q13.1-q13.2 | P12694 | 2-oxoisovalerate dehydrogenase alpha subunit, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 1889817 | Branched-chain-alpha-keto-acid-dehydrogenase-complex-(BCKDH) | 608348 | Maple-syrup-urine-disease-(MSUD)-[248600]
BCKDHB | ENSG00000083123 | 594 | E1B | 6q13-q15 | P21953 | 2-oxoisovalerate dehydrogenase beta subunit, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 2365818 | Branched-chain-alpha-keto-acid-dehydrogenase-complex-(BCKDH) | 248611 | Maple-syrup-urine-disease-(MSUD)-[248600]
BCL2 | ENSG00000171791 | 596 | Bcl-2 | 18q21.33|18q21.3 | P10415 | Apoptosis regulator Bcl-2 | Mitochondria;Mitochondrial-outer-membrane | 1453000 |  | 151430 | Chronic-lymphocytic-leukemia-(CLL)-[151400]
BCS1L | [NAME] | 617 | [NAME] | 2q33 | Q9Y276 | H-BCS1 | Mitochondria;Mitochondrial-inner-membrane | 9878253 | Respiratory-chain-complex-III-(RCCIII);RCCIII-assembly | 603647 | Deficiency-of-respiratory-chain-complex-III-(RCC3)-[124000];Gracile-syndrome-(FLNMS)-[603358]
CASP8 | ENSG00000064012 | 841 | CAP4;FLICE;MACH;MCH5;MGC78473 | 2q33-q34 | Q14790 | Caspase-8 precursor | Cytoplasm;Mitochondria | 10822379 |  | 601763 | Colorectal-cancer-(CRC)-[114500];Hepatocellular-carcinoma-(HCC)-[114550];Autoimmune-lymphoproliferative-syndrome-type-2B-(ALPS2B)-[607271]
CLN3 | ENSG00000188603 | 1201 | BTS;MGC102840 | 16p12.1 | Q13286 | CLN3 protein | Cytoplasm;Golgi-apparatus;Lysosome;Mitochondria-related | 8980123;9949212 |  | 607042 | Neuronal-ceroid-lipofuscinosis-juvenile-type-(CLN3)-[204200]
[NAME] | ENSG00000006695 | 1352 | - | 17p12-p11.2 | Q12887 | Protoheme IX farnesyltransferase, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 8078902 | Respiratory-chain-complex-IV-(RCCIV);RCCIV-assembly | 602125 | Deficiency-of-respiratory-chain-complex-IV-(RCC4)-[220110]
[NAME] | ENSG00000014919 | 1355 | - | 10q24 | Q7KZN9 | Cytochrome c oxidase assembly protein [NAME] homolog | Mitochondria;Mitochondrial-inner-membrane | 15235026 | Respiratory-chain-complex-IV-(RCCIV);RCCIV-assembly | 603646 | Deficiency-of-respiratory-chain-complex-IV-(RCC4)-[220110]
CPOX | ENSG00000080819 | 1371 | CPO;CPX;HCP | 3q12 | P36551 | Coproporphyrinogen III oxidase, mitochondrial precursor | [NAME] | 8407975 |  | 121300 | Hereditary-coproporphyria-(HCP)-[121300]
CPS1 | ENSG00000021826 | 1373 | - | 2q35 | P31327 | Carbamoyl-phosphate synthase [ammonia], mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 11577071;15876373 | Urea-cycle | 608307 | Carbamoyl-phosphate-synthetase-I-deficiency-(CPS1D)-[237300]
CPT1A | ENSG00000110090 | 1374 | CPT1;CPT1-L;L-CPT1 | 11q13.1-q13.2 | P50416 | [NAME] I, mitochondrial liver isoform | Mitochondria;Mitochondrial-outer-membrane;Nucleus | 7892212 |  | 600528 | [NAME]-I-deficiency-[255120]
CPT2 | ENSG00000157184 | 1376 | CPT1;CPTASE | 1p32 | P23786 | [NAME], mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 10577999 |  | 600650 | [NAME]]
CYB5A | ENSG00000166347 | 1528 | CYB5;MCB5 | 18q23 | P00167 | Cytochrome b5 | Cytoplasm;Endoplasmatic-reticulum;Microsome;Mitochondria;Mitochondrial-outer-membrane | 12668680;14733950 |  | 250790 | Methemoglobinemia-(type-IV)-due-to-deficiency-of-CYB5-[250790]
CYB5R3 | ENSG00000100243 | 1727 | B5R;DIA1 | 22q13.31-qter|22q13.2-q13.31 | P00387 | NADH-cytochrome b5 reductase (B5R) (Diaphorase-1) | Endoplasmatic-reticulum;Membrane;Mitochondria;Mitochondrial-outer-membrane | 7668255 |  | 250800 | Methemoglobinemia-(type-I-and-II)-due-to-deficiency-of-CYB5-[250800]
CYBA | ENSG00000051523 | 1535 | - | 16q24 | P13498 | Cytochrome b-245 light chain (p22 phagocyte B-cytochrome) (Neutrophil cytochrome B, 22 kDa polypeptide) (p22-phox) (p22phox) (Cytochrome B(558) alpha chain) (Cytochrome b558 alpha-subunit) (Superoxide-generating NADPH oxidase light chain subunit) | Membrane;Mitochondria-related | 10788525 | NADPH-oxidase-complex | 608508 | Chronic-granulomatosis-disease-(CGD)-[233690]
CYBB | ENSG00000165168 | 1536 | CGD;GP91-1;GP91-PHOX;GP91PHOX;NOX2 | [NAME] | P04839 | Cytochrome B-245 heavy chain (P22 phagocyte B-cytochrome) (Neutrophil cytochrome B, 91 kDa polypeptide) (CGD91-PHOX) (GP91-PHOX) (GP91-1) (Heme binding membrane glycoprotein GP91PHOX) (Cytochrome B(558) beta chain) (Superoxide-generating NADPH oxidase heavy chain subunit) (NADPH oxidase 2) (NOX2) | Membrane;Mitochondria-related | 10788525 | NADPH-oxidase-complex | 300481 | Chronic-granulomatosis-disease-X-linked-(CGD)-[306400]
CYP11A1 | ENSG00000140459 | 1583 | CYP11A;P450SCC | 15q23-q24 | P05108 | Cytochrome P450 11A1, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 1863359;16038609 |  | 118485 | Congenital-lipoid-adrenal-hyperplasia-(CLAH)-[201710]
CYP11B1 | ENSG00000160882 | 1584 | CPN1;CYP11B;DKFZp686B05283;FHI;FLJ36771;P450C11 | 8q21 | P15538 | Cytochrome P450 11B1, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 2592361 |  | 610613 | Familial-Hyperaldosteronism-type-I-(FH1)-[103900];Adrenal-hyperplasia-type-IV-(AH-IV)-[202010]
CYP11B2 | ENSG00000179142 | 1585 | [NAME] | 8q21-q22 | P19099 | Cytochrome P450 11B2, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 9177280 |  | 124080 | Familial-Hyperaldosteronism-type-I-(FH1)-[103900];Deficiency-of-corticosterone-methyloxidase-(CMO)-[124080]
CYP27A1 | ENSG00000135929 | 1593 | CP27;CTX;CYP27 | 2q33-qter | Q02318 | Cytochrome P450 27, mitochondrial precursor | [NAME] | 1708392 |  | 606530 | Cerebrotendinous-xanthomatosis-(CTX)-[213700]
CYP27B1 | ENSG00000111012 | 1594 | CP2B;CYP1;CYP1alpha;CYP27B;P450c1;PDDR;VDD1;VDDR;VDDRI;VDR | 12q13.1-q13.3 | O15528 | 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 9428799 |  | 609506 | Vitamin-D-dependent-rickets-type-1-(VDDR1)-[264700]
DBT | ENSG00000137992 | 1629 | BCATE2;E2;E2B;MGC9061 | 1p31 | P11182 | Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 1429740 | Branched-chain-alpha-keto-acid-dehydrogenase-complex-(BCKDH) | 248610 | Maple-syrup-urine-disease-(MSUD)-[248600]
DGUOK | ENSG00000114956 | 1716 | dGK | 2p13 | Q16854 | Deoxyguanosine kinase, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 10951205 |  | 601465 | Mitochondrial-DNA-depletion-syndrome-(MDS-hepatocerebral-form)-[251880]
DLAT | ENSG00000150768 | 1737 | DLTA;PDC-E2;PDCE2 | 11q23.1 | P10515 | Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 3174635 | Pyruvate-dehydrogenase-complex-(PDH) | 608770 | Primary-biliary-cirrhosis-(PBC)-[109720];Pyruvate-dehydrogenase-E2-deficiency-[245348]
DLD | ENSG00000091140 | 1738 | DLDH;E3;GCSL;LAD;PHE3 | 7q31-q32 | P09622 | Dihydrolipoyl dehydrogenase, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 9073359;12805207;9727038 | Alpha-ketoglutarate-dehydrogenase-complex-(AKDH);Branched-chain-alpha-keto-acid-dehydrogenase-complex-(BCKDH);Glycine-cleavage-system-complex-(GCC);Pyruvate-dehydrogenase-complex-(PDH);Tricarboxylic-acid-cycle-(TCA) | 238331 | Maple-syrup-urine-disease-(MSUD)-[248600]
DLST | ENSG00000119689 | 1743 | DLTS | 14q24.3 | P36957 | Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial precursor (E2) | Membrane;Mitochondria;Mitochondrial-matrix | 9405249;12805207;9727038 | Alpha-ketoglutarate-dehydrogenase-complex-(AKDH);Tricarboxylic-acid-cycle-(TCA) | 126063 | Alpha-ketoglutarate-dehydrogenase-deficiency-[203740]
[NAME] | ENSG00000132837 | 29958 | DMGDHD;ME2GLYDH | 5q14.1 | Q9UI17 | Dimethylglycine dehydrogenase, mitochondrial precursor | [NAME] | 1710985 |  | 605849 | Dimethylglycine-dehydrogenase-deficiency-(DMGDHD)-[605850]
DMPK | ENSG00000104936 | 1760 | DM;DM1;DM1PK;DMK;MDPK;MT-PK | 19q13.3 | Q09013 | Myotonin-protein kinase | Cytoplasm;Endoplasmatic-reticulum;Mitochondria;Mitochondrial-outer-membrane | 12897125 |  | 605377 | [NAME]-myotonica-1-(DM1)-[160900]
[NAME] | ENSG00000205981 | 131118 | TIM14;TIMM14 | 3q26.33 | Q96DA6 | Translocase of the inner mitochondrial membrane 14, isoform a | Mitochondria;Mitochondrial-inner-membrane | 16055927 | Mitochondrial-intermembrane-space-protein-transporter-complex | 608977 | Dilated-cardiomyopathy-with-ataxia-(DCMA)-[608977]
ECGF1 | ENSG00000025708 | 1890 | MNGIE;PDECGF;TP;hPD-ECGF | 22q13|22q13.33 | P19971 | Thymidine phosphorylase precursor | Cytoplasm;Mitochondria-related;Nucleus | 10741286;9924029 |  | 131222 | Myoneurogastrointestinal-encephalopathy-syndrome-(MNGIE)-[603041]
ETFA | ENSG00000140374 | 2108 | EMA;GA2;MADD | 15q23-q25 | P13804 | Electron transfer flavoprotein alpha-subunit, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 8617498 | Electron-transfer-flavoprotein-complex-(ETF) | 608053 | Multiple-Acyl-CoA-dehydrogenase-deficiency-(MADD)-[231680]
ETFB | ENSG00000105379 | 2109 | [NAME] | 19q13.3 | P38117 | Electron transfer flavoprotein beta-subunit | Mitochondria;Mitochondrial-matrix | 8504797 | Electron-transfer-flavoprotein-complex-(ETF) | 130410 | Multiple-Acyl-CoA-dehydrogenase-deficiency-(MADD)-[231680]
ETFDH | ENSG00000171503 | 2110 | ETFQO;MADD | 4q32-q35 | Q16134 | Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 8306995 |  | 231675 | Multiple-Acyl-CoA-dehydrogenase-deficiency-(MADD)-[231680]
ETHE1 | ENSG00000105755 | 23474 | HSCO;YF13H12 | 19q13.31 | [NAME] | HSCO protein | Mitochondria;Mitochondrial-matrix | 14732903 |  | 608451 | Ethylmalonic-encephalopathy-[602473]
FECH | ENSG00000066926 | 2235 | EPP;FCE | 18q21.3 | P22830 | Ferrochelatase, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 1985464 |  | 177000 | Erythropoietic-protoporphyria-(EPP)-[177000]
FH | ENSG00000091483 | 2271 | HLRCC;LRCC;MCL;MCUL1 | 1q42.1 | P07954 | Fumarate hydratase, mitochondrial precursor | Cytoplasm;Mitochondria;Mitochondrial-matrix | 8200987 | Tricarboxylic-acid-cycle-(TCA) | 136850 | Hereditary-multiple-cutaneous-leiomyoma-(MCUL)-[150800];Hereditary-leiomyomatosis-and-renal-cell-cancer-(HLRCC)-[605839];Deficiency-of-fumarate-hydratase-(FHD)-[606812]
FXN | ENSG00000165060 | 2395 | CyaY;FA;FARR;FRDA;MGC57199;X25 | 9q13-q21.1 | Q16595 | Frataxin, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 9302253 |  | 606829 | Friedreich-ataxia-1-(FRDA1)-[229300]
GATM | ENSG00000171766 | 2628 | AGAT;AT | 15q21.1 | P50440 | Glycine amidinotransferase, mitochondrial precursor | Cytoplasm;Mitochondria;Mitochondrial-intermembrane-space | 9218780 |  | 602360 | Arginine-glycine-amidinotransferase-deficiency-(AGAT)-[602360]
GCDH | ENSG00000105607 | 2639 | ACAD5;GCD | 19p13.2 | Q92947 | Glutaryl-CoA dehydrogenase, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 8541831 |  | 608801 | Glutaric-acidemia-type-I-(GA-I)-[231670]
GCK | ENSG00000106633 | 2645 | GK;GLK;HHF3;HK4;HKIV;HXKP;MODY2 | 7p15.3-p15.1 | P35557 | Hexokinase D | Mitochondria;Mitochondrial-outer-membrane | 12931191 |  | 138079 | Maturity-onset-diabetes-of-the-young-type-II-(MODY2)-[125851];Noninsulin-dependent-diabetes-mellitus-(NIDDM)-[125853];Autosomal-dominant-Hyperinsulinism-(ADHI)-[602485];Permanent-neonatal-diabetes-mellitus-(PNDM)-[606176]
GCSH | ENSG00000140905 | 2653 | GCE;NKH | 16q23.2 | P23434 | Glycine cleavage system H protein, mitochondrial precursor | [NAME] | 6790577 | Glycine-cleavage-system-complex-(GCC) | 238330 | Glycine-encephalopathy-(GCE)-[605899]
GDAP1 | ENSG00000104381 | 54332 | - | 8q21.11 | Q8TB36 | Ganglioside-induced differentiation-associated protein 1 | Mitochondria;Mitochondrial-outer-membrane | 16172208;15772096 |  | 606598 | Charcot-Marie-Tooth-disease-[NAME]-disease-with-vocal-cord-paresis-[607706];Charcot-Marie-Tooth-disease-intermediate-A-(CMTRIA)-[608340]
GFM1 | ENSG00000168827 | 85476 | COXPD1;EFG;EFG1;EFGM;EGF1;FLJ12662;FLJ13632;FLJ20773;GFM;hEFG1 | 3q25.1-q26.2 | Q96RP9 | Elongation factor G 1, mitochondrial precursor (mEF-G 1) | [NAME] | 15537906 |  | 606639 | Combined-oxidative-phosphorylation-deficiency-COXPD1-[609060]
GK | ENSG00000198814 | 2710 | [NAME] | Xp21.3 | [NAME] | Glycerol kinase | Cytoplasm;Mitochondria;Mitochondrial-outer-membrane | 2988520;10444329 |  | 300474 | Hyperglycerolemia-(GKD)-[307030]
GLDC | ENSG00000178445 | 2731 | GCE;GCSP;HYGN1;MGC138198;MGC138200;NKH | 9p22 | P23378 | Glycine dehydrogenase [decarboxylating], mitochondrial precursor | [NAME] | 6778858 | Glycine-cleavage-system-complex-(GCC) | 238300 | Glycine-encephalopathy-(GCE)-[605899]
GLUD1 | ENSG00000148672 | 2746 | GDH;GLUD;MGC132003 | 10q23.3 | P00367 | Glutamate dehydrogenase 1, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 10812208 |  | 138130 | Familial-Hyperinsulinemic-Hypoglycemia-(HHF6)-[606762]
GPD2 | ENSG00000115159 | 2820 | GDH2;mGPDH | 2q24.1 | P43304 | Glycerol-3-phosphate dehydrogenase, mitochondrial precursor | [NAME] | 9070847 |  | 138430 | Noninsulin-dependent-diabetes-mellitus-(NIDDM)-[125853]
HADH | ENSG00000138796 | 3033 | HAD;HADH1;HADHSC;HHF4;M/SCHAD;MGC8392;SCHAD | 4q22-q26 | Q16836 | Short chain 3-hydroxyacyl-CoA dehydrogenase, mitochondrial precursor (HCDH) (Medium and short chain [NAME]-coenzyme A dehydrogenase) | Mitochondria;Mitochondrial-matrix | 11559359 |  | 601609 | 3-alpha-hydroxyacyl-CoA-dehydrogenase-deficiency-(HAD)-[231530]
HADHA | ENSG00000084754 | 3030 | GBP;HADH;LCHAD;MGC1728;MTPA;TP-ALPHA | 2p23 | P40939 | Trifunctional enzyme alpha subunit, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 1550553;15229654 | Mitochondrial-trifunctional-protein-complex | 600890 | Trifunctional-protein-deficiency-(MTPD)-[609015];Long-chain-3-hydroxyl-CoA-dehydrogenase-deficiency-(LCHAD)-[609016]
HADHB | ENSG00000138029 | 3032 | MGC87480;MSTP029;TP-BETA | 2p23 | P55084 | Trifunctional enzyme beta subunit, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 1550553;15229654 | Mitochondrial-trifunctional-protein-complex | 143450 | Trifunctional-protein-deficiency-(MTPD)-[609015]
HD | ENSG00000197386 | 3064 | HTT;IT15 | 4p16.3 | P42858 | [NAME] (Huntington's disease protein) (HD protein) | Cytoplasm;Mitochondria-related;Nucleus | 15340079;9778247 |  | 143100 | Huntington-disease-(HD)-[143100]
HK1 | ENSG00000156515 | 3098 | HK1-ta;HK1-tb;HK1-tc;HKI;HXK1 | 10q22 | P19367 | Hexokinase, type I | Mitochondria;Mitochondrial-outer-membrane | 11204446 |  | 142600 | Hexokinase-deficiency-hemolytic-anemia-[235700]
HLCS | ENSG00000159267 | 3141 | HCS | 21q22.1|21q22.13 | P50747 | Biotin-protein ligase | Cytoplasm;Mitochondria | 7753853 |  | 609018 | Multiple-carboxylase-deficiency-(MCD)-[253270]
HMGCL | ENSG00000117305 | 3155 | HL | 1p36.1-p35 | P35914 | Hydroxymethylglutaryl-CoA lyase, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 8102917 |  | 246450 | HMG-CoA-lyase-deficiency-(HMGCL)-[246450]
HMGCS2 | ENSG00000134240 | 3158 | - | 1p13-p12 | P54868 | Hydroxymethylglutaryl-CoA synthase, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 7851882;1971108 |  | 600234 | HMG-CoA-synthase-deficiency-(HMGCS2)-[605911]
HSD17B10 | ENSG00000072506 | 3028 | 17b-HSD10;ABAD;ERAB;HADH2;HCD2;MHBD;SCHAD | Xp11.2 | Q99714 | 3-hydroxyacyl-CoA dehydrogenase type II (Type II HADH) | [NAME] | 10329704;11430884 |  | 300256 | Hydroxyacyl-CoA-dehydrogenase-deficiency-type-II-(MHBD)-[300438]
HSD3B2 | ENSG00000203859 | 3284 | [NAME] | 1p13.1 | P26439 | 3 beta-hydroxysteroid dehydrogenase/delta 5->4-isomerase type II | Endoplasmatic-reticulum;Mitochondria | 305825;10514560 |  | 201810 | Adrenal-hyperplasia-type-II-(AH-II)-[201810]
HSPD1 | ENSG00000144381 | 3329 | CPN60;GROEL;HSP60;HSP65;HuCHA60;SPG13 | 2q33.1 | P10809 | 60 kDa heat shock protein, mitochondrial precursor | Endoplasmatic-reticulum;Mitochondria | 1972619 |  | 118190 | Autosomal-dominant-spastic-paraplegia-(SPG13)-[605280]
HTRA2 | ENSG00000115317 | 27429 | OMI;PARK13;PRSS25 | 2p12 | O43464 | Serine protease HTRA2, mitochondrial precursor (High temperature requirement protein A2) (HtrA2) (Omi stress-regulated endoprotease)             (Serine proteinase OMI) | Cytoplasm;Endoplasmatic-reticulum;Mitochondria;Mitochondrial-intermembrane-space | 15961413 |  | 606441 | Parkinson-disease-(PD)-[168600]
IVD | ENSG00000128928 | 3712 | ACAD2 | 15q14-q15 | P26440 | Isovaleryl-CoA dehydrogenase, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 10713113 |  | 607036 | Isovaleric-acidemia-(IVA)-[243500]
KIF1B | ENSG00000054523 | 23095 | CMT2;CMT2A;CMT2A1;FLJ23699;HMSNII;KIAA0591;KIAA1448;KLP;MGC134844 | 1p36.2 | O60333 | Kinesin-like protein KIF1B | Cytoplasm;Mitochondria;Mitochondrial-outer-membrane | 7528108;11389829 |  | 605995 | Charcot-Marie-Tooth-disease-type-2A1-(CMT2A1)-[118210]
LRPPRC | ENSG00000138095 | 10128 | CLONE-23970;GP130;LRP130;LSFC | 2p21 | P42704 | 130 [NAME] leucine-rich protein | Endoplasmatic-reticulum;Mitochondria;Nucleus | 12529507;12832482;15081402 |  | 607544 | Leigh-syndrome-French-Canadian-type-(LSFC)-[220111]
LRRK2 | ENSG00000188906 | 120892 | AURA17;PARK8;RIPK7;ROCO2 | 12q12 | Q5S007 | Leucine-rich repeat kinase 2 | Cytoplasm;Mitochondria;Mitochondrial-outer-membrane | 16269541;16352719 |  | 609007 | Parkinson-disease-(PARK8)-[607060]
MAOA | ENSG00000189221 | 4128 | - | Xp11.3 | P21397 | Amine oxidase [flavin-containing] A | Mitochondria;Mitochondrial-outer-membrane | 4291912 |  | 309850 | Brunner's-syndrome-[309850]
MCCC1 | ENSG00000078070 | 56922 | DKFZp686B20267;FLJ25545;MCC-B;MCCA | 3q27 | Q96RQ3 | Methylcrotonyl-CoA carboxylase alpha chain, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 11406611 | Methylcrotonyl-CoA-carboxylase-(MCC) | 609010 | 3-Methylcrotonyl-CoA-carboxylase-1-deficiency-(MCCC1)-[210200]
MCCC2 | ENSG00000131844 | 64087 | MCCB | 5q12-q13 | Q9HCC0 | Methylcrotonyl-CoA carboxylase beta chain, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 11406611 | Methylcrotonyl-CoA-carboxylase-(MCC) | 609014 | 3-Methylcrotonyl-CoA-carboxylase-2-deficiency-(MCCC2)-[210210]
ME2 | ENSG00000082212 | 4200 | - | 6p25-p24|18q21 | P23368 | NAD-dependent malic enzyme, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 1993674;15532013 |  | 154270 | Idiopathic-generalized-epilepsy-(IGE)-[600669]
MFN2 | ENSG00000116688 | 9927 | CMT2A;CMT2A2;CPRP1;HSG;KIAA0214;MARF | 1p36.22 | O95140 | [NAME] | Mitochondria;Mitochondrial-outer-membrane | 11950885 |  | 608507 | Peripheral-neuropathy-and-optic-atrophy-(HMSNVI)-[601152];Charcot-Marie-Tooth-disease-type-2A2-(CMT2A2)-[609260]
MLYCD | ENSG00000103150 | 23417 | MCD;MGC59795 | 16q24 | O95822 | Malonyl-CoA decarboxylase, mitochondrial precursor | Cytoplasm;Mitochondria;Peroxisome | 4180063;10417274;10455107;12955715 |  | 606761 | Malonyl-CoA-decarboxylase-deficiency-(MLYCD)-[248360]
MMAA | ENSG00000151611 | 166785 | MGC120010;MGC120011;MGC120012;MGC120013 | 4q31.22 | [NAME] | Methylmalonic aciduria type A protein, mitochondrial precursor | [NAME] | 12438653 |  | 607481 | Methylmalonic-aciduria-cblA-type-(MMAA)-[251100]
MMAB | ENSG00000139428 | 326625 | ATR;MGC20496 | 12q24 | Q96EY8 | Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial [Precursor] | [NAME] | 12438653 |  | 607568 | Methylmalonic-aciduria-cblB-type-(MMAB)-[251110]
MPV17 | ENSG00000115204 | 4358 | SYM1 | 2p23.3 | P39210 | Protein Mpv17 | Mitochondria;Mitochondrial-inner-membrane | 16582910 |  | 137960 | Mitochondrial-DNA-depletion-syndrome-(MDS-hepatocerebral-form)-[251880];Navajo-neurohepatopathy-(NNH)-[256810]
MRPS16 | ENSG00000182180 | 51021 | CGI-132;COXPD2;FLJ22062;FLJ40972;MRP-S16;RPMS16 | 10q22.1 | Q9Y3D3 | 28S ribosomal protein S16, mitochondrial precursor (S16mt) (MRP-S16) | [NAME] | 15505824 | Mitochondrial-ribosome-complex | 609204 | Combined-oxidative-phosphorylation-deficiency-COXPD2-[610498]
MTCP1 | ENSG00000182712 | 4515 | C6.1B | Xq28 | P56278 | P8 MTCP-1 protein | Cytoplasm;Mitochondria | 7784073;7970717 |  | 300116 | Chronic-lymphocytic-leukemia-(TCL1)-[186960]
MTHFD1 | ENSG00000100714 | 4522 | MTHFC;MTHFD | 14q24 | P11586 | C-1-tetrahydrofolate synthase, cytoplasmic | Cytoplasm;Mitochondria-related | 3528153;15611115 |  | 172460 | Neural-tube-defects-(NTD)-[601634]
MTRR | ENSG00000124275 | 4552 | MGC129643;MSR | 5p15.3-p15.2 | [NAME] | Methionine synthase reductase, mitochondrial precursor | Cytoplasm;Mitochondria | 14651971 |  | 602568 | Homocystinuria-megaloblastic-anemia-due-to-defects-in-cobalamin-metabolism-(cblE)-[236270];Neural-tube-defects-(NTD)-[601634]
MUT | ENSG00000146085 | 4594 | MCM | 6p21 | P22033 | Methylmalonyl-CoA mutase, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 9554742 |  | 609058 | Methylmalonicaciduria-due-to-MCM-deficiency-[251000]
[NAME] | ENSG00000161653 | 162417 | AGAS;ARGA;MGC133025 | 17q21.31 | Q8N159 | N-acetylglutamate synthetase | Mitochondria;Mitochondrial-matrix | 5096083;12459178 | Urea-cycle | 608300 | N-acethylglutamase-synthase-deficiency-(NAGSD)-[237310]
NDUFA12L | ENSG00000164182 | 91942 | B17.2L;FLJ22398;MMTN;mimitin | 5q12.1 | Q8N183 | Mimitin, mitochondrial precursor (Myc-induced mitochondrial protein) | Mitochondria;Mitochondrial-inner-membrane | 16200211;15774466 | Respiratory-chain-complex-I-(RCCI);RCCI-assembly | 609653 | Deficiency-of-respiratory-chain-complex-I-(RCC1)-[252010]
NDUFS1 | ENSG00000023228 | 4719 | CI-75Kd;MGC26839;PRO1304 | 2q33-q34 | P28331 | NADH-ubiquinone oxidoreductase 75 [NAME] subunit, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 9878551 | Respiratory-chain-complex-I-(RCCI) | 157655 | Deficiency-of-respiratory-chain-complex-I-(RCC1)-[252010]
NDUFS2 | ENSG00000158864 | 4720 | - | 1q23 | O75306 | NADH-ubiquinone oxidoreductase 49 kDa subunit, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 9585441 | Respiratory-chain-complex-I-(RCCI) | 602985 | Deficiency-of-respiratory-chain-complex-I-(RCC1)-[252010]
NDUFS3 | ENSG00000110536 | 4722 | - | 11p11.11 | O75489 | NADH-ubiquinone oxidoreductase 30 [NAME] subunit, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 14729820 | Respiratory-chain-complex-I-(RCCI) | 603846 | Deficiency-of-respiratory-chain-complex-I-(RCC1)-[252010]
NDUFS4 | ENSG00000164258 | 4724 | AQDQ | 5q11.1 | O43181 | NADH-ubiquinone oxidoreductase 18 kDa subunit, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 9463323 | Respiratory-chain-complex-I-(RCCI) | 602694 | Deficiency-of-respiratory-chain-complex-I-(RCC1)-[252010]
NDUFS6 | ENSG00000145494 | 4726 | - | 5p15.33 | O75380 | NADH-ubiquinone oxidoreductase 13 kDa-A subunit, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 15372108 | Respiratory-chain-complex-I-(RCCI) | 603848 | Deficiency-of-respiratory-chain-complex-I-(RCC1)-[252010]
NDUFS7 | ENSG00000115286 | 374291 | [NAME] | 19p13.3 | [NAME] | NADH-ubiquinone oxidoreductase 20 [NAME] subunit, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 10360771 | Respiratory-chain-complex-I-(RCCI) | 601825 | Deficiency-of-respiratory-chain-complex-I-(RCC1)-[252010]
NDUFS8 | ENSG00000110717 | 4728 | TYKY | 11q13 | O00217 | NADH-ubiquinone oxidoreductase 23 [NAME] subunit, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 9837812 | Respiratory-chain-complex-I-(RCCI) | 602141 | Deficiency-of-respiratory-chain-complex-I-(RCC1)-[252010]
NDUFV1 | ENSG00000167792 | 4723 | UQOR1 | 11q13 | P49821 | NADH-ubiquinone oxidoreductase 51 [NAME] subunit, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 8288251 | Respiratory-chain-complex-I-(RCCI) | 161015 | Deficiency-of-respiratory-chain-complex-I-(RCC1)-[252010]
NDUFV2 | ENSG00000178127 | 4729 | - | 18p11.31-p11.2 | P19404 | NADH-ubiquinone oxidoreductase 24 kDa subunit, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 12754703 | Respiratory-chain-complex-I-(RCCI) | 600532 | Deficiency-of-respiratory-chain-complex-I-(RCC1)-[252010]
OAT | ENSG00000065154 | 4942 | DKFZp781A11155;HOGA | 10q26 | P04181 | Ornithine aminotransferase, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 8281144 |  | 258870 | Ornithine-aminotransferase-deficiency-(OAT)-[258870]
OGDH | ENSG00000105953 | 4967 | AKGDH;E1k;OGDC | 7p14-p13 | Q02218 | 2-oxoglutarate dehydrogenase E1 component, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 8020988;1542694;12805207;9727038 | Alpha-ketoglutarate-dehydrogenase-complex-(AKDH);Tricarboxylic-acid-cycle-(TCA) | 203740 | Alpha-ketoglutarate-dehydrogenase-deficiency-[203740]
OGG1 | ENSG00000114026 | 4968 | HMMH;HOGG1;MUTM;OGH1 | 3p26.2 | O15527 | N-glycosylase/DNA lyase | Mitochondria;Mitochondrial-inner-membrane;Nucleus | 10233168;11554447 |  | 601982 | Hereditary-renal-cell-carcinoma-(RCC1)-[144700];Prostate-cancer-[176807];Lung-cancer-[211980];Squamous-cell-carcinoma-of-the-head-and-neck-(HNSCC)-[275355]
OPA1 | ENSG00000198836 | 4976 | [NAME] | 3q28-q29|3q28-q29 | O60313 | Dynamin-like 120 kDa protein, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 12123827 |  | 605290 | Optic-atrophy-1-and-deafness-[125250];Optic-atrophy-1-(OPA1)-[165500];Susceptibility-to-normal-tension-glaucoma-(NPG)-[606657]
[NAME] | ENSG00000125741 | 80207 | FLJ22187;FLJ25932;MGA3;MGC75494 | 19q13.32 | Q9H6K4 | Optic atrophy 3 protein | [NAME] | 11668429 |  | 606580 | Optic-atrophy-and-cataract-(ADOAC)-[165300];3-methylglutaconicaciduria-type-III-(MGAIII)-[258501]
OTC | ENSG00000036473 | 5009 | MGC129967;MGC129968;MGC138856;OCTD | [NAME] | [NAME] | Ornithine carbamoyltransferase, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 3891325 | Urea-cycle | 300461 | Hyperammonemia-due-to-ornithine-transcarbamylase-deficieny-(OTCD)-[311250]
[NAME] | ENSG00000083720 | 5019 | OXCT;SCOT | 5p13.1 | P55809 | [NAME]-coenzyme A transferase, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 10964512 |  | 601424 | Deficiency-of-Succinyl-CoA:3-oxoacid-CoA-transferase-(OXCT)-[245050]
PANK2 | ENSG00000125779 | 80025 | C20orf48;HARP;HSS;MGC15053;NBIA1;PKAN | 20p13 | [NAME] | Pantothenate kinase 2, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 12554685;16437574 |  | 606157 | Pantothenate-kinase-associated-neurodegeneration-(PKAN)-[234200];Hypoprebetalipoproteinemia-acanthocytosis-retinitis-pigmentosa-and-pallidal-degeneration-(HARP)-[607236]
PARK7 | ENSG00000116288 | 11315 | DJ-1;DJ1;FLJ27376 | 1p36.33-p36.12 | Q99497 | Protein DJ-1 ([NAME]) | Cytoplasm;Mitochondria;Mitochondrial-matrix;Nucleus | 15944198;16298734;15365989 |  | 602533 | Amyotrophic-lateral-sclerosis-parkinsonism-dementia-complex1-(Guam-disease)-[105500];Early-onset-Parkinson-disease-(PARK7)-[606324]
PARL | ENSG00000175193 | 55486 | PRO2207;PSARL;PSARL1;PSENIP2;RHBDS1 | 3q27.1 | Q9H300 | Presenilins-associated rhomboid-like protein, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane;Nucleus | 12774122;12214059;14732705 |  | 607858 | Noninsulin-dependent-diabetes-mellitus-(NIDDM)-[125853]
PC | ENSG00000173599 | 5091 | PCB | 11q13.4-q13.5 | [NAME] | Pyruvate carboxylase, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 7918683 |  | 608786 | Pyruvate-carboxylase-deficiency-(PC)-[266150]
PCCA | ENSG00000175198 | 5095 | - | 13q32 | P05165 | Propionyl-CoA carboxylase alpha chain, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 8188292 | Propionyl-CoA-carboxylase-(PCC) | 232000 | [NAME]]
PCCB | ENSG00000114054 | 5096 | DKFZp451E113 | 3q21-q22 | P05166 | Propionyl-CoA carboxylase beta chain, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 8188292 | Propionyl-CoA-carboxylase-(PCC) | 232050 | [NAME]]
PCK2 | ENSG00000100889 | 5106 | PEPCK;PEPCK-M;PEPCK2 | 14q12 | Q16822 | Phosphoenolpyruvate carboxykinase, mitochondrial precursor [GTP] | Cytoplasm;Mitochondria | 8645161 |  | 261650 | Phosphoenolpyruvate-carboxykinase-2-deficiency-(PEPCK2)-[261650]
PDHA1 | ENSG00000131828 | 5160 | PDHA;PDHCE1A;PHE1A | [NAME] | P08559 | Pyruvate dehydrogenase E1 component alpha subunit, somatic form, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 7573035 | Pyruvate-dehydrogenase-complex-(PDH);Tricarboxylic-acid-cycle-(TCA) | 300502 | Leigh-syndrome-X-linked-(LS-X)-[308930];Pyruvate-decarboxylase-deficiency-[312170]
PDHB | ENSG00000168291 | 5162 | DKFZp564K0164;PHE1B | 3p21.1-p14.2 | P11177 | Pyruvate dehydrogenase E1 component beta subunit, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 2376596 | Pyruvate-dehydrogenase-complex-(PDH) | 179060 | Pyruvate-dehydrogenase-E1-beta-deficiency-[179060]
PDHX | ENSG00000110435 | 8050 | [NAME] | 11p13 | O00330 | Pyruvate dehydrogenase protein X component, mitochondrial precursor | Mitochondria;Mitochondrial-matrix | 9467010 | Pyruvate-dehydrogenase-complex-(PDH) | 608769 | Pyruvate-dehydrogenase-E3-binding-protein-deficiency-[245349]
PEO1 | ENSG00000107815 | 56652 | C10orf2;FLJ21832;PEO;PEOA3;SANDO;TWINL | 10q23.3-q24.3 | Q96RR1 | Putative T7-like mitochondrial DNA helicase | Mitochondria;Mitochondrial-matrix | 11431692 |  | 606075 | Infantile-onset-spinocerebellar-ataxia-(IOSCA)-[271245];Sensory-ataxic-neuropathy-dysarthria-and-ophthalmoparesis-(SANDO)-[607459];Progressive-external-ophthalmoplegia-with-mitochondrial-DNA-deletions-(PEOA3)-[609286]
PHB | ENSG00000167085 | 5245 | - | 17q21 | P35232 | Prohibitin | [NAME] | 15250827;14500729 |  | 176705 | Sporadic-breast-cancer-[176705]
PINK1 | ENSG00000158828 | 65018 | BRPK;FLJ27236;PARK6 | 1p36 | Q9BXM7 | Serine/threonine kinase PINK1, mitochondrial precursor (PTEN induced utative kinase protein 1) (BRPK) | [NAME] | 15087508;16207731 |  | 608309 | Early-onset-Parkinson-disease-(PARK6)-[605909]
POLG | ENSG00000140521 | 5428 | FLJ27114;PEO;POLG1;POLGA;SANDO;SCAE | 15q25 | P54098 | DNA polymerase gamma subunit 1 | [NAME] | 10608893;12087165 | DNA-polymerase-complex | 174763 | Progressive-external-ophthalmoplegia-with-mitochondrial-DNA-deletions-(PEOA1)-[157640];Susceptibility-for-male-infertility-[174763];Alpers-diffuse-degeneration-of-cerebral-gray-matter-with-hepatic-cirrhosis-(PNDC)-[203700];Progressive-external-ophthalmoplegia-with-mitochondrial-DNA-deletions-(PEOB)-[258450];Sensory-ataxic-neuropathy-dysarthria-and-ophthalmoparesis-(SANDO)-[607459]
POLG2 | ENSG00000136480 | 11232 | HP55;MTPOLB;PEOA4;POLB;POLGB | 17q | Q9UHN1 | DNA polymerase gamma subunit 2, mitochondrial precursor | [NAME] | 16685652 | DNA-polymerase-complex | 604983 | Progressive-external-ophthalmoplegia-with-mitochondrial-DNA-deletions-(PEOA1)-[157640]
PPOX | ENSG00000143224 | 5498 | MGC8485;PPO;V290M;VP | 1q22 | P50336 | Protoporphyrinogen oxidase | Mitochondria;Mitochondrial-inner-membrane | 7713909 |  | 600923 | Porphyria-variegata-(VP)-[176200]
[NAME] | ENSG00000100033 | 5625 | FLJ33744;HSPOX2;MGC148078;MGC148079;PIG6;PRODH1;PRODH2;SCZD4;TP53I6 | 22q11.21 | O43272 | Proline oxidase, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 15662599;11069295;8776899 |  | 606810 | Hyperprolinemia-type-I-(HP-I)-[239500];Susceptibility-for-schizophrenia-4-(SCZD4)-[600850]
PUS1 | ENSG00000177192 | 80324 | MGC11268;MLASA | 12q24.33 | Q9Y606 | tRNA pseudouridine synthase A | [NAME] | 15108122 |  | 608109 | Mitochondrial-myopathy-and-sideroblastic-anemia-(MLASA)-[600462]
RMRP | ENSG00000199916 | 6023 | CHH;RMRPR | 9p21-p12 | M29916 | Human mitochondrial RNA-processing endoribonuclease RNA (mrp) gene | Mitochondria;Mitochondrial-matrix;Nucleus | 3582365 |  | 157660 | Cartilage-hair-hypoplasia-(CHH)-[250250];Metaphyseal-dysplasia-without-hypotrichosis-(CHHV)-[250460];Anauxetic-dysplasia-[607095]
RNASEL | ENSG00000135828 | 6041 | DKFZp781D08126;MGC104972;MGC133329;PRCA1;RNS4 | 1q25 | Q05823 | 2-5A-dependent ribonuclease | Cytoplasm;Mitochondria | 11585831;16532271 |  | 180435 | Pancreatic-carcinoma-[260350];Hereditary-prostata-cancer-1-(HPC1);Susceptibility-to-prostata-cancer-(PCS1)-[601518]
SCO1 | ENSG00000133028 | 6341 | SCOD1 | 17p12-p13 | O75880 | SCO1 protein homolog, mitochondrial precursor | [NAME] | 9878253 | Respiratory-chain-complex-IV-(RCCIV);RCCIV-assembly | 603644 | Deficiency-of-respiratory-chain-complex-IV-(RCC4)-[220110]
SCO2 | ENSG00000130489 | 9997 | MGC125823;MGC125825;SCO1L | 22q13.33 | O43819 | SCO2 [NAME], mitochondrial precursor | [NAME] | 10218584 | Respiratory-chain-complex-IV-(RCCIV);RCCIV-assembly | 604272 | Fatale-infantile-cardioencephalopathy-due-to-cytochrome-c-oxidase-deficiency-(FIC)-[604377]
SDHA | ENSG00000073578 | 6389 | FP;SDH2;SDHF | 5p15 | P31040 | Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 7550341 | Respiratory-chain-complex-II-(RCCII);Tricarboxylic-acid-cycle-(TCA) | 600857 | Deficiency-of-respiratory-chain-complex-II-(RCC2)-[252011]
SDHB | ENSG00000117118 | 6390 | IP;PGL4;SDH;SDH1;SDHIP | 1p36.1-p35 | P21912 | Succinate dehydrogenase [ubiquinone] iron-sulfur protein, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 11404820 | Respiratory-chain-complex-II-(RCCII);Tricarboxylic-acid-cycle-(TCA) | 185470 | Paragangliomas-4-(PGL4)-[115310];Pheochromocytoma-[171300]
SDHC | ENSG00000143252 | 6391 | CYB560;CYBL;PGL3;QPS1;SDH3 | 1q21 | Q99643 | Succinate dehydrogenase cytochrome b560 subunit, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 9714607 | Respiratory-chain-complex-II-(RCCII);Tricarboxylic-acid-cycle-(TCA) | 602413 | Paragangliomas-3-(PGL3)-[605373]
SDHD | ENSG00000204370 | 6392 | CBT1;PGL;PGL1;SDH4 | 11q23 | O14521 | Succinate dehydrogenase [ubiquinone] cytochrome B small subunit, mitochondrial precursor | Mitochondria;Mitochondrial-inner-membrane | 9533030 | Respiratory-chain-complex-II-(RCCII);Tricarboxylic-acid-cycle-(TCA) | 602690 | Intestinal-carcinoid-tumors-[114900];Paragangliomas-1-(PGL1)-[168000];Pheochromocytoma-[171300]
SLC19A2 | ENSG00000117479 | 10560 | TC1;THT1;THTR1;TRMA | 1q23.3 | O60779 | Thiamine transporter 1 (THTR-1) (ThTr1) (Thiamine carrier 1) (TC1) | Membrane;Mitochondria-related | 10978358 |  | 603941 | Thiamine-responsive-megaloblastic-anemia-syndrome-(TRMA)-[249270]
SLC25A13 | ENSG00000004864 | 10165 | ARALAR2;CITRIN;CTLN2 | 7q21.3 | Q9UJS0 | Calcium-binding mitochondrial carrier protein Aralar2 | Mitochondria;Mitochondrial-inner-membrane | 11566871 | Urea-cycle | 603859 | Adult-onset-citrullinemia-type-II-(CTLN2)-[603471];Neonatal-onset-citrullinemia-type-II-(NICCD)-[605814]
SLC25A15 | ENSG00000102743 | 10166 | D13S327;HHH;ORC1;ORNT1 | 13q14 | Q9Y619 | Mitochondrial ornithine transporter 1 | Mitochondria;Mitochondrial-inner-membrane | 10369256 | Urea-cycle | 603861 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria-syndrome-(HHH)-[238970]
SLC25A16 | ENSG00000122912 | 8034 | D10S105E;GDA;GDC;HGT.1;MGC39851;ML7;hML7 | 10q21.3 | P16260 | Grave's disease carrier protein | Mitochondria;Mitochondrial-inner-membrane | 2575220 |  | 139080 | Graves-disease-(GRD)-[275000]
SLC25A19 | [NAME] | 60386 | [NAME] | 17q25.3 | Q9HC21 | Mitochondrial deoxynucleotide carrier | Mitochondria;Mitochondrial-inner-membrane | 11226231 |  | 606521 | Microcephaly-amish-type-(MCPHA)-[607196]
SLC25A20 | ENSG00000178537 | 788 | CAC;CACT | 3p21.31 | O43772 | Mitochondrial carnitine/acylcarnitine carrier protein | Mitochondria;Mitochondrial-inner-membrane | 9399886 |  | 212138 | Carnitine-acylcarnitine-translocase-deficiency-(CACTD)-[212138]
SLC25A22 | ENSG00000177542 | 79751 | FLJ13044;GC1 | 11p15.5 | Q9H936 | Mitochondrial glutamate carrier 1 (Glutamate/H(+) symporter 1) (Solute carrier family 25 member 22) | Mitochondria;Mitochondrial-inner-membrane | 11897791;15592994 |  | 609302 | Neonatal-epilepsy-with-suppression-burst-pattern-(EME)-[609304]
SLC25A4 | ENSG00000151729 | 291 | ANT;ANT1;PEO2;PEO3;T1 | 4q35 | P12235 | ADP,ATP carrier protein, heart/skeletal muscle isoform T1 | Mitochondria;Mitochondrial-inner-membrane | 2823266 |  | 103220 | Progressive-external-ophthalmoplegia-with-mitochondrial-DNA-deletions-(PEOA2)-[609283]
SOD1 | ENSG00000142168 | 6647 | ALS;ALS1;IPOA;SOD;homodimer | 21q22.1|21q22.11 | P00441 | Superoxide dismutase [Cu-Zn] | Cytoplasm;Endoplasmatic-reticulum;Mitochondria;Nucleus | 12393885;16461917;16050975;16636275 |  | 147450 | Amyotrophic-lateral-sclerosis-(ALS1)-[105400]
SPAST | ENSG00000021574 | 6683 | ADPSP;FSP2;KIAA1083;SPG4 | 2p24-p21 | Q9UBP0 | Spastin | Microtubulus;Mitochondria-related;Nucleus | 11309190;14681884;15210521 |  | 604277 | Autosomal-dominant-spastic-paraplegia-(SPG4)-[182601]
SPG7 | ENSG00000197912 | 6687 | CAR;CMAR;FLJ37308;MGC126331;MGC126332;PGN | 16q24.3 | [NAME] | Paraplegin | Mitochondria;Mitochondrial-inner-membrane | 9635427;14623864;16239145 |  | 602783 | Autosomal-recessive-spastic-paraplegia-(SPG7)-[607259]
STAR | ENSG00000147465 | 6770 | STARD1 | 8p11.2 | P49675 | Steroidogenic acute regulatory protein, mitochondrial precursor | [NAME] | 7548191 |  | 600617 | Congenital-lipoid-adrenal-hyperplasia-(CLAH)-[201710]
SUCLA2 | ENSG00000136143 | 8803 | A-BETA | 13q12.2-q13.3 | [NAME] | Succinate-CoA ligase, ADP-forming, beta subunit | Mitochondria;Mitochondrial-matrix | 15877282 | Tricarboxylic-acid-cycle-(TCA) | 603921 | Mitochondrial-DNA-depletion-syndrome-(MDS-myopathic-form)-[609560]
SUOX | ENSG00000139531 | 6821 | - | 12q13.2 | P51687 | Sulfite oxidase, mitochondrial precursor | Mitochondria;Mitochondrial-intermembrane-space | 7615346 |  | 606887 | Sulfocysteinuria-(ISOD)-[272300]
SURF1 | ENSG00000148290 | 6834 | - | 9q34.2 | Q15526 | Surfeit locus protein 1 | Mitochondria;Mitochondrial-inner-membrane | 10556302 | Respiratory-chain-complex-IV-(RCCIV);RCCIV-assembly | 185620 | Deficiency-of-respiratory-chain-complex-IV-(RCC4)-[220110]
TAT | ENSG00000198650 | 6898 | - | 16q22.1 | P17735 | Tyrosine aminotransferase | Cytoplasm;Mitochondria | 4389443 |  | 276600 | Tyrosine-transaminase-deficiency-(Richner-Hanhart-syndrome-RHS)-[276600]
TAZ | ENSG00000102125 | 6901 | BTHS;CMD3A;EFE;EFE2;FLJ27390;G4.5;LVNCX;Taz1;XAP-2 | Xq28 | [NAME] | Tafazzin | Cytoplasm;Membrane;Mitochondria;Mitochondrial-outer-membrane | 10407787;16135531 |  | 300394 | Dilated-Cardiomyopathy-type-3A-(CMD3A)-[300069];Isolated-noncompaction-of-left-ventricular-myocardium-(LVNCX)-[300183];Barth-syndrome-(BTHS)-[302060]
TIMM8A | ENSG00000126953 | 1678 | DDP;DDP1;DFN1;MGC12262;MTS | Xq22.1 | O60220 | Mitochondrial import inner membrane translocase subunit TIM8 A | Mitochondria;Mitochondrial-intermembrane-space | 10051608;11956200 | Mitochondrial-intermembrane-space-protein-transporter-complex | 300356 | [NAME]-syndrome-(MTS)-[304700];Opticoacoustic-nerve-atrophy-with-dementia-(Jensen-syndrome)-[311150]
TK2 | ENSG00000166548 | 7084 | - | 16q22-q23.1 | O00142 | Thymidine kinase 2, mitochondrial precursor | [NAME] | 605384 |  | 188250 | Mitochondrial-DNA-depletion-syndrome-(MDS-myopathic-form)-[609560]
TP53 | ENSG00000141510 | 7157 | LFS1;TRP53;p53 | 17p13.1 | P04637 | Cellular tumor antigen p53 (Tumor suppressor p53) ([NAME] p53) (Antigen NY-CO-13) | Cytoplasm;Mitochondria;Mitochondrial-outer-membrane;Nucleus | 10821866;12667443 |  | 191170 | Breast-cancer-(BRCA)-[114480];Colorectal-cancer-(CRC)-[114500];Hepatocellular-carcinoma-(HCC)-[114550];Li-Fraumeni-syndrome-(LFS)-[151623];Adrenocortical-carcinoma-(ADCC)-[202300];Pancreatic-carcinoma-[260350]
UCP1 | ENSG00000109424 | 7350 | SLC25A7;UCP | 4q28-q31 | P25874 | Mitochondrial brown fat uncoupling protein 1 (UCP 1) (Thermogenin) | Mitochondria;Mitochondrial-inner-membrane | 11572862 | Uncoupling-protein-complex-(UCP) | 113730 | Noninsulin-dependent-diabetes-mellitus-(NIDDM)-[125853];Obesity-[601665]
UCP2 | [NAME] | 7351 | SLC25A8;UCPH | 11q13 | P55851 | Mitochondrial uncoupling protein 2 | Mitochondria;Mitochondrial-inner-membrane | 11171965 | Uncoupling-protein-complex-(UCP) | 601693 | Noninsulin-dependent-diabetes-mellitus-(NIDDM)-[125853];Obesity-[601665]
UCP3 | ENSG00000175564 | 7352 | SLC25A9 | 11q13 | P55916 | Mitochondrial uncoupling protein 3 | Mitochondria;Mitochondrial-inner-membrane | 10631320 | Uncoupling-protein-complex-(UCP) | 602044 | Noninsulin-dependent-diabetes-mellitus-(NIDDM)-[125853];Obesity-[601665]
UNG | ENSG00000076248 | 7374 | DGU;DKFZp781L1143;HIGM4;UDG;UNG1;UNG15 | 12q23-q24.1 | P13051 | Uracil-DNA glycosylase (UDG) | Mitochondria;Nucleus | 12958596 |  | 191525 | Immunodeficiency-with-hyper-IgM-type-5-(HIGM5)-[608106]
UQCRB | ENSG00000156467 | 7381 | QP-C;QPC;UQBC;UQBP;UQPC | 8q22 | P14927 | Ubiquinol-cytochrome c reductase complex 14 kDa protein | Mitochondria;Mitochondrial-inner-membrane | 12709789 | Respiratory-chain-complex-III-(RCCIII) | 191330 | Deficiency-of-respiratory-chain-complex-III-(RCC3)-[124000]
UROS | ENSG00000188690 | 7390 | - | 10q25.2-q26.3 | P10746 | Uroporphyrinogen-III synthase | Cytoplasm;Mitochondria-related | 7597845;3792391 |  | 606938 | Congenital-erythropoietic-porphyria-(CEP)-[263700]
WFS1 | ENSG00000109501 | 7466 | DFNA14;DFNA38;DFNA6;DIDMOAD;WFRS;WFS;WOLFRAMIN | 4p16 | O76024 | Wolframin | Endoplasmatic-reticulum;Mitochondria-related | 9817917;9771706;16195229 |  | 606201 | Wolfram-syndrome-(DIDMOAD)-[222300];Autosomal-dominant-nonsyndromic-sensorineural-deafness-(DFNA6)-[600965]
WWOX | ENSG00000186153 | 51741 | D16S432E;FOR;FRA16D;HHCMA56;PRO0128;WOX1;WWOX v8 | 16q23.3-q24.1 | Q9NZC7 | Oxidoreductase | [NAME] | 15664696;11744990;14695174;10786676 |  | 605131 | Esophageal-squamous-cell-carcinoma-(ESCC)-[133239];Pancreatic-carcinoma-[260350]