MOCS1
قراءة متعمقة

Reiss J، Johnson JL (2003). "Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH". Hum. Mutat. ج. 21 ع. 6: 569–76. DOI:10.1002/humu.10223. PMID:12754701.
Shalata A، Mandel H، Reiss J، وآخرون (1998). "Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping". Am. J. Hum. Genet. ج. 63 ع. 1: 148–54. DOI:10.1086/301916. PMC:1377237. PMID:9634514.
Feng G، Tintrup H، Kirsch J، وآخرون (1998). "Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity". Science. ج. 282 ع. 5392: 1321–4. DOI:10.1126/science.282.5392.1321. PMID:9812897.
Reiss J، Christensen E، Kurlemann G، وآخرون (1999). "Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.". Hum. Genet. ج. 103 ع. 6: 639–44. DOI:10.1007/s004390050884. PMID:9921896.
Reiss J، Christensen E، Dorche C (1999). "Molybdenum cofactor deficiency: first prenatal genetic analysis". Prenat. Diagn. ج. 19 ع. 4: 386–8. DOI:10.1002/(SICI)1097-0223(199904)19:4<386::AID-PD550>3.0.CO;2-#. PMID:10327149.
Gray TA، Nicholls RD (2000). "Diverse splicing mechanisms fuse the evolutionarily conserved bicistronic MOCS1A and MOCS1B open reading frames". RNA. ج. 6 ع. 7: 928–36. DOI:10.1017/S1355838200000182. PMC:1369970. PMID:10917590.
Hänzelmann P، Schwarz G، Mendel RR (2002). "Functionality of alternative splice forms of the first enzymes involved in human molybdenum cofactor biosynthesis". J. Biol. Chem. ج. 277 ع. 21: 18303–12. DOI:10.1074/jbc.M200947200. PMID:11891227.{{استشهاد بدورية محكمة}}:  صيانة الاستشهاد: دوي مجاني غير معلم (link)
Gross-Hardt S، Reiss J (2003). "The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons". Mol. Genet. Metab. ج. 76 ع. 4: 340–3. DOI:10.1016/S1096-7192(02)00100-2. PMID:12208140.
Strausberg RL، Feingold EA، Grouse LH، وآخرون (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. ج. 99 ع. 26: 16899–903. DOI:10.1073/pnas.242603899. PMC:139241. PMID:12477932.
Mungall AJ، Palmer SA، Sims SK، وآخرون (2003). "The DNA sequence and analysis of human chromosome 6". Nature. ج. 425 ع. 6960: 805–11. DOI:10.1038/nature02055. PMID:14574404.
Ota T، Suzuki Y، Nishikawa T، وآخرون (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. ج. 36 ع. 1: 40–5. DOI:10.1038/ng1285. PMID:14702039.
Hänzelmann P، Hernández HL، Menzel C، وآخرون (2004). "Characterization of MOCS1A, an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis". J. Biol. Chem. ج. 279 ع. 33: 34721–32. DOI:10.1074/jbc.M313398200. PMID:15180982.{{استشهاد بدورية محكمة}}:  صيانة الاستشهاد: دوي مجاني غير معلم (link)
Gerhard DS، Wagner L، Feingold EA، وآخرون (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. ج. 14 ع. 10B: 2121–7. DOI:10.1101/gr.2596504. PMC:528928. PMID:15489334.
Ichida K، Aydin HI، Hosoyamada M، وآخرون (2007). "A Turkish case with molybdenum cofactor deficiency". Nucleosides Nucleotides Nucleic Acids. ج. 25 ع. 9–11: 1087–91. DOI:10.1080/15257770600894022. PMID:17065069.
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معرفات كيميائية:  قاعدة بيانات التتابع المرجعي (RefSeq RNA): XM_047418828  
| ع ن جينات الكروموسوم 6 | ع ن جينات الكروموسوم 6 |
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جينات الكروموسوم 6:  TAF13  CDCA8  CFHR4  RWDD3  CRTC2  EBNA1BP2  KIFAP3  HNRPU  Peflin  VAMP4  S100A13  SEMA6C  MFSD2  FBXO2  CEP104  EIF3I  PDZK1IP1  SLAMF6  CLCN6  ELK4  Trichohyalin  PTBP2  PHC2  EPHA10  NFASC  FHL3  SSR2  CDKN2C  SLC9A11  LHX4  CCDC28B  RIT1  CFHR1  FOXE3  WNT3A  HIST3H3  MRPS21  APH-1  REG4  OR10K1  GJB5  IPO9  CLSPN  TOMM20  MCL1  ATF6  NBPF10  PFDN2  VAV3  LRRN2  ANGPTL3  ZCCHC17  TCTEX1D4  SCMH1  RABIF  CLCA2  NPHS2  CEP350  IVNS1ABP  H6PD  GBP1  SCYL3  VPS13D  EIF4G3  ZNF238  USH2A  CSMD2  ITGB3BP  Matrilin-1  TAL1  CLCNKB  GPSM2  HSPA7  RAP1A  MYCL1  SGIP1  HORMAD1  CYP4X1  CLCA1  INTS7  TSPAN2  SASS6  SESN2  RBBP5  ZNF593  LRRC39  MTX1  UTP11L  ZRANB2  Stratifin  TNFAIP8L2  APOBEC4  AP4B1  SH3GLB1  FCGR2A  ZZZ3  Calponin  TBX19  TACSTD2  PADI1  IPO13  EIF2B3  TEX35  HEATR1  FCN3  GJA4  ATPAF1  UBAP2L  CSRP1  SCP2  PLEKHA6  RERE  HAPLN2  YTHDF2  ALG14  HES3  NOS1AP  TBCE  EDARADD  SLC50A1  SLC45A3  EXTL1  S100A2  CLCC1  GNG4  NFIA  GLMN  LMX1A  VPS45  GATAD2B  SPRR1B  SCAMP3  SMCP  FCER1G  EXOC8  PRDM2  PLD5  CYP4Z1  HES5  CDC73  RBM8A  CD52  S100A16  CD5L  RAB3B  TAF12  RC3H1  TOMM40L  PLEKHG5  ATP1A2  BCL9  SYT6  MRPL55  SOX13  NUCKS1  WDR26  BNIPL  MED18  FCER1A  RAB7B  NDC1  WNT2B  SH2D2A  MDM4  TTF2  Opticin  PAQR7  CFHR5  SLC2A7  Consortin  S100A3  AMY1C  LGTN  CYP4B1  TRIM11  MTFR1L  HSPA6  RGS18  SF3A3  GJB3  GNL2  RRP15  Prokineticin  SH2D1B  GNG12  RCC2  AIM2  FLVCR1  ISG15  NOL9  KIF2C  PRELP  RNF220  ILF2  ARHGEF11  HAX1  Loricrin  RBP7  SMG5  ERMAP  SFRS11  HIST2H2BF  PRKAA2  SLC25A24  TMEM9  NECAP2  SPSB1  CTNNBIP1  INTS3  TXNDC12  DCLRE1B  TNFSF18  TOE1  MRPL20  GIPC2  KPNA6  SLC30A1  DNAJB4  KIF1B  SYT11  INSL5  MMACHC  SSX2IP  PSRC1  YY1AP1  LIX1L  INSRR  PEX11B  WDR3  ARL8A  GON4L  TCEB3  EXTL2  NCDN  ألفا-تاكسلن  MOSC2  GJB4  FBXO28  PNRC2  RCAN3  SFRS4  ZBTB48  PLXNA2  CCT3  CENPF  SPEN  KIF14  TRAPPC3  ARPC5  TRMT13  MMEL1  CAPN9  TROVE2  STX12  INTS11  NAV1  ZBTB7B  SNAPAP  ST3GAL3  UBXD5  FNBP1L  MRPL24  TDRKH  FBLIM1  PYGO2  SPRR2A  SMG7  SERBP1  MPZL1  CATSPERE  NT5C1A  ANKRD13C  OR2G6  ERO1LB  MNDA  SPRTN  Kiaa1107  GJA8  LEFTY2  Myocilin  KIAA0460  FAM132A  RBM34  Syndecan-3  OVGP1  ZNF281  VPS72  GNG5  NHLH1  MARCKSL1  RASAL2  TFAP2E  DEDD  RGS13  TNNI3K  PYCR2  VTCN1  EVI5  RRAGC  GPA33  بريفيكان  CNIH4  OTUD7B  Intelectin-2  DNM3  F13B  S100A14  UBE4B  HIST3H2BB  KLF17  PEX10  WDR8  أرتمين  ARID4B  NRD1  UBIAD1  SSBP3  CREG1  ZC3H12A  LIN9  NKAIN1  AKR7A3  FAF1  POU3F1  LRRC41  ARHGEF2  CFHR2  SNIP1  GORAB  SRRM1  WASF2  E2F2  NPHP4  TMCO1  ZBED6  NFYC  Tenascin-R  RBM15  NUF2  S100A8  C1orf21  VANGL2  SPRR1A  NEGR1  KIF17  MRPL37  ZNF687  Fibromodulin  APOA1BP  CLSTN1  FAM129A  SYT14  THRAP3  LRRC8D  AGBL4  IL22RA1  PRPF3  PAQR6  RAB13  MAD2L2  PTCH2  BCAR3  PAPPA2  SLAMF7  APOA2  RGS1  GMEB1  ZP4  HIST3H2A  SIPA1L2  CLDN19  WDR47  ERRFI1  LSM10  RNF11  MTF1  PPFIA4  HIST2H2AC  PEA15  PADI3  RGS7  FBXO6  STIL  SV2A  PUM1  GNB1  IFI6  CD32  BLZF1  EPHA8  MAGOH  UHMK1  ARF1  INADL  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PCDHA2  UNC5A  REEP5  KCNIP1  ARL15  PWWP2A  WNT8A  LHFPL2  SLC6A18  TNFAIP8  FYB  CREBRF  LPCAT1  CDH12  PCDHB16  CXXC5  ANKH  BRD8  SAR1B  Beta-synuclein  NIPBL  HSD17B4  CCNG1  SLC25A24  WDR36  EDIL3  PCDHA9  POLR3G  PDZD2  IPO11  SIL1  NREP  EBF1  MZB1  CENPK  DCTN4  CDX1  TBCA  TRIM41  UTP15  SPINK1  SLU7  RASGRF2  GLRX  FBXO4  C5orf42  TTC1  SSBP2  PCDHB12  ATG10  SLC36A2  UBE2B  Neurogenin-1  SUB1  FBXL7  SNCAIP  SCGB3A1  FAM172A  SNX2  PDLIM4  PHAX  ZFYVE16  STK10  FAM114A2  PCDHA5  PCDHB11  RANBP3L  PCDHB2  MTMR12  SCAMP1  CLPTM1L  PAIP2  CDH6  EIF4E1B  SH3TC2  HINT1  MRPS30  HSPB3  SLIT3  DOK3  CD14  CRHBP  CDC23  SEMA6A  MOCS2  PPIP5K2  POU4F3  GTF2H2  SPEF2  ZBED3  TIMD4  FCHSD1  PPARGC1B  NDFIP1  HAPLN1  LMAN2  MAP1B  PCDHB15  CEP72  Delta-sarcoglycan  CDH10  RGS14  TINP1  FGF10  ADAMTS6  NSD1  ESM1  DNAH5  REEP2  NSUN2  ARHGAP26  RHOBTB3  KIF3A  LARP1  TGFBI  ABLIM3  MED10  ERAP2  TPPP  LYSMD3  STC2  RAI14  CNOT8  Calpastatin  UQCRQ  ATG12  PCDHB13  NOLA2  CEP120  CNOT6  BDP1  SNAG1  AGXT2  HNRPH1  SKIV2L2  PNRC1  RANBP9  HIST1H2BB  NOL7  TCF19  ELOVL5  HIST1H2BA  HSF2  FOXQ1  C4A  Thrombospondin-2  ZNF76  BTNL2  NDUFAF4  TCP11  CD2AP  VARS2  TSPYL1  Ezrin  PDSS2  TFAP2D  SASH1  MRPS18A  MTRF1L  HIST1H2BN  EFHC1  HEBP2  DCDC2  APOBEC2  RREB1  MYLIP  PACRG  PRICKLE4  FKBPL  AIM1  PBX2  HIVEP2  LCA5  HIST1H1T  DYNLT1  SSR1  EYA4  TRAM2  SOGA3  TINAG  KIF13A  PEX3  HIST1H2AD  UNC93A  SERPINB6  TFAP2B  PNISR  HLA-DPB1  MB21D1  HIST1H2AC  EPHA7  KLHDC3  RSPH9  Secretagogin  FAM46A  TAF8  HIST1H2BM  PLAGL1  SNX3  FGD2  TRAF3IP2  PERP  NFKBIE  HIST1H2AJ  REPS1  GFRAL  PHF1  CDKAL1  HIST1H1D  WASF1  KPNA5  SEC63  MRPL18  MRPS18B  HLA-DOA  RNGTT  TEAD3  E2F3  HIST1H2BL  KLC4  SERAC1  VPS52  TULP1  AHI1  KIAA1949  FRS3  GOPC  HIST1H4G  MYO6  HIST1H2BK  TFEB  HLA-DQA2  RIPOR2  VTA1  LMBRD1  ZNF452  NFYA  GJB7  NCOA7  FANCE  CLIC5  SERPINB1  HIST1H2AH  MTO1  TJAP1  Fibrocystin  SERPINB9  RGS17  IER3  ASF1A  PKIB  NRN1  KDM1B  TUBB2A  SYNCRIP  IMPG1  SERINC1  KIAA0319  RCAN2  TBPL1  OSTM1  EXOC2  SMOC2  GTF2H5  ECT2L  SOX4  TRERF1  MDN1  SMAP1  BTN3A3  HEY2  QKI  GCM2  TXNDC5  CUL7  CYP39A1  FOXP4  ETV7  SESN1  RSPH3  TLX  KAAG1  FBXO5  RDBP  RNF146  SLC26A8  ZNF193  METTL24  RSPH4A  HIST1H2AA  TXLNB  UNC5CL  NHLRC1  ZNF451  HIST1H2BH  STX7  FLOT1  ZNF318  PHF3  AIG1  GCM1  ELOVL4  POU3F2  Corneodesmosin  MOCS1  ACOT13  HIST1H2BO  HIST1H1A  TMEM242  C6orf10  HIVEP1  FBXL4  NRSN1  HIST1H4J  HIST1H2BD  GJA10  PHF10  POPDC3  SNAP91  ZDHHC14  ORC3  EPB41L2  SPDEF  MRAP2  SF3B5  SYNJ2  RSPO3  POLR1C  ZFP57  AKIRIN2  HMGN3  CDC40  GTF2H4  MMS22L  SNX9  FILIP1  RGL2  HLA-DRB1  STXBP5  MRS2L  MICAL1  BAG2  MDFI  TMEM200A  LST1  BAT4  PAQR8  TREML1  FHL5  FBXO9  C6orf89  MAD2L1BP  HIST1H1E  UBE2J1  DEF6  MAP7  TPD52L1  TTRAP  SFRS3  HIST1H1C  إم آي آر 4640  VNN2  PPP1R3G  BYSL  ASCC3  TUBE1  TRIM38  SLC17A3  HIST1H1B  HLA-DMA  EEF1E1  CITED2  LRRC16A  KCNK5  YIPF3  CASP8AP2  CLDN20  APOM  KIF6  RAB23  DOM3Z  HIST1H2BJ  LRP11  RFX6 
بوابة طب
بوابة الكيمياء الحيوية
بوابة علم الأحياء الخلوي والجزيئي
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التصنيفات الطبية:  دليل الوراثة المندلية عند البشر (OMIM): 603707  
المعرفات الخارجية:  Ensembl Transcript ID: ENST00000645522  نظام اللغة الطبية الموحدة (UMLS CUI): C1417224