Rare disease: Isolated complex I deficiency (Orphanet code 2609)
Associated genes:
Name: transmembrane protein 126B
Symbol: TMEM126B
Synonyms: lang: en
text: HT007
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase complex assembly factor 8
Symbol: NDUFAF8
GeneType: Name: gene with protein product
Name: translocase of inner mitochondrial membrane domain containing 1
Symbol: TIMMDC1
Synonyms: lang: en
text: FLJ22597
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase subunit B11
Symbol: NDUFB11
Synonyms: lang: en
text: ESSS
lang: en
text: NP17.3
lang: en
text: Np15
lang: en
text: complex I NP17.3 subunit
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase subunit A6
Symbol: NDUFA6
Synonyms: lang: en
text: B14
lang: en
text: CI-B14
lang: en
text: LYRM6
lang: en
text: NADHB14
lang: en
text: complex I B14 subunit
GeneType: Name: gene with protein product
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
Symbol: MT-ND1
Synonyms: lang: en
text: NAD1
lang: en
text: NADH-ubiquinone oxidoreductase chain 1
lang: en
text: ND1
lang: en
text: complex I ND1 subunit
GeneType: Name: gene with protein product
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2
Symbol: MT-ND2
Synonyms: lang: en
text: NAD2
lang: en
text: NADH-ubiquinone oxidoreductase chain 2
lang: en
text: ND2
lang: en
text: complex I ND2 subunit
GeneType: Name: gene with protein product
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
Symbol: MT-ND3
Synonyms: lang: en
text: NAD3
lang: en
text: NADH-ubiquinone oxidoreductase chain 3
lang: en
text: ND3
lang: en
text: complex I ND3 subunit
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase complex assembly factor 2
Symbol: NDUFAF2
Synonyms: lang: en
text: B17.2L
lang: en
text: MMTN
lang: en
text: Myc-induced mitochondrial protein
lang: en
text: mimitin
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase core subunit S1
Symbol: NDUFS1
Synonyms: lang: en
text: CI-75k
lang: en
text: NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
lang: en
text: complex I 75kDa subunit
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase core subunit S2
Symbol: NDUFS2
Synonyms: lang: en
text: CI-49
lang: en
text: NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial
lang: en
text: complex I 49kDa subunit
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase core subunit S3
Symbol: NDUFS3
Synonyms: lang: en
text: CI-30
lang: en
text: NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial
lang: en
text: complex I 30kDa subunit
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase subunit S4
Symbol: NDUFS4
Synonyms: lang: en
text: AQDQ
lang: en
text: CI-18
lang: en
text: complex I 18kDa subunit
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase subunit S6
Symbol: NDUFS6
Synonyms: lang: en
text: CI-13kA
lang: en
text: NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial
lang: en
text: complex I 13kDa subunit A
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase core subunit S7
Symbol: NDUFS7
Synonyms: lang: en
text: CI-20
lang: en
text: FLJ45860
lang: en
text: FLJ46880
lang: en
text: NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial
lang: en
text: PSST
lang: en
text: complex I 20kDa subunit
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase core subunit S8
Symbol: NDUFS8
Synonyms: lang: en
text: CI-23k
lang: en
text: NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial
lang: en
text: TYKY
lang: en
text: complex I 23kDa subunit
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase core subunit V1
Symbol: NDUFV1
Synonyms: lang: en
text: CI-51K
lang: en
text: NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial
lang: en
text: complex I 51kDa subunit
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase core subunit V2
Symbol: NDUFV2
Synonyms: lang: en
text: CI-24k
lang: en
text: NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial
lang: en
text: complex I 24kDa subunit
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase subunit A1
Symbol: NDUFA1
Synonyms: lang: en
text: CI-MWFE
lang: en
text: MWFE
lang: en
text: NADH:ubiquinone oxidoreductase (complex 1)
lang: en
text: complex I MWFE subunit
lang: en
text: type I dehydrogenase
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase complex assembly factor 4
Symbol: NDUFAF4
Synonyms: lang: en
text: HRPAP20
lang: en
text: HSPC125
lang: en
text: My013
lang: en
text: bA22L21.1
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase complex assembly factor 5
Symbol: NDUFAF5
Synonyms: lang: en
text: dJ842G6.1
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase subunit A11
Symbol: NDUFA11
Synonyms: lang: en
text: B14.7
lang: en
text: complex I B14.7 subunit
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase complex assembly factor 3
Symbol: NDUFAF3
Synonyms: lang: en
text: 2P1
lang: en
text: DKFZP564J0123
lang: en
text: E3-3
lang: en
text: MGC10527
GeneType: Name: gene with protein product
Name: NUBP iron-sulfur cluster assembly factor, mitochondrial
Symbol: NUBPL
Synonyms: lang: en
text: FLJ12660
lang: en
text: IND1
lang: en
text: huInd1
lang: en
text: iron-sulfur protein required for NADH dehydrogenase
GeneType: Name: gene with protein product
Name: FAD dependent oxidoreductase domain containing 1
Symbol: FOXRED1
Synonyms: lang: en
text: H17
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase complex assembly factor 1
Symbol: NDUFAF1
Synonyms: lang: en
text: CGI-65
lang: en
text: CIA30
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase subunit B9
Symbol: NDUFB9
Synonyms: lang: en
text: B22
lang: en
text: Complex I B22 subunit
lang: en
text: LYRM3
lang: en
text: UQOR22
lang: en
text: complex I B22 subunit
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase subunit B3
Symbol: NDUFB3
Synonyms: lang: en
text: B12
lang: en
text: Complex I B12 subunit
lang: en
text: complex I B12 subunit
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase subunit B10
Symbol: NDUFB10
Synonyms: lang: en
text: PDSW
lang: en
text: complex I PDSW subunit
GeneType: Name: gene with protein product