MOCS1

Molybdenum cofactor synthesis 1, also known as MOCS1, is a human gene.cite web | title = Entrez Gene: MOCS1 molybdenum cofactor synthesis 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4337| accessdate = ]

PBB_Summary
section_title =
summary_text = Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in molybdenum cofactor biosynthesis. This gene was originally thought to produce a bicistronic mRNA with the potential to produce two proteins (MOCS1A and MOCS1B) from adjacent open reading frames. However, only the first open reading frame (MOCS1A) has been found to encode a protein from the putative bicistronic mRNA. Two of the splice variants found for this gene express proteins (MOCS1A-MOCS1B) that result from a fusion between the two open reading frames. This gene is defective in patients with molybdenum cofactor deficiency, type A.cite web | title = Entrez Gene: MOCS1 molybdenum cofactor synthesis 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4337| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Reiss J, Johnson JL |title=Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. |journal=Hum. Mutat. |volume=21 |issue= 6 |pages= 569–76 |year= 2003 |pmid= 12754701 |doi= 10.1002/humu.10223
*cite journal | author=Shalata A, Mandel H, Reiss J, "et al." |title=Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping. |journal=Am. J. Hum. Genet. |volume=63 |issue= 1 |pages= 148–54 |year= 1998 |pmid= 9634514 |doi=
*cite journal | author=Reiss J, Cohen N, Dorche C, "et al." |title=Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. |journal=Nat. Genet. |volume=20 |issue= 1 |pages= 51–3 |year= 1998 |pmid= 9731530 |doi= 10.1038/1706
*cite journal | author=Feng G, Tintrup H, Kirsch J, "et al." |title=Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity. |journal=Science |volume=282 |issue= 5392 |pages= 1321–4 |year= 1998 |pmid= 9812897 |doi=
*cite journal | author=Reiss J, Christensen E, Kurlemann G, "et al." |title=Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. |journal=Hum. Genet. |volume=103 |issue= 6 |pages= 639–44 |year= 1999 |pmid= 9921896 |doi=
*cite journal | author=Reiss J, Dorche C, Stallmeyer B, "et al." |title=Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. |journal=Am. J. Hum. Genet. |volume=64 |issue= 3 |pages= 706–11 |year= 1999 |pmid= 10053004 |doi=
*cite journal | author=Reiss J, Christensen E, Dorche C |title=Molybdenum cofactor deficiency: first prenatal genetic analysis. |journal=Prenat. Diagn. |volume=19 |issue= 4 |pages= 386–8 |year= 1999 |pmid= 10327149 |doi=
*cite journal | author=Gray TA, Nicholls RD |title=Diverse splicing mechanisms fuse the evolutionarily conserved bicistronic MOCS1A and MOCS1B open reading frames. |journal=RNA |volume=6 |issue= 7 |pages= 928–36 |year= 2000 |pmid= 10917590 |doi=
*cite journal | author=Hänzelmann P, Schwarz G, Mendel RR |title=Functionality of alternative splice forms of the first enzymes involved in human molybdenum cofactor biosynthesis. |journal=J. Biol. Chem. |volume=277 |issue= 21 |pages= 18303–12 |year= 2002 |pmid= 11891227 |doi= 10.1074/jbc.M200947200
*cite journal | author=Gross-Hardt S, Reiss J |title=The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons. |journal=Mol. Genet. Metab. |volume=76 |issue= 4 |pages= 340–3 |year= 2003 |pmid= 12208140 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Mungall AJ, Palmer SA, Sims SK, "et al." |title=The DNA sequence and analysis of human chromosome 6. |journal=Nature |volume=425 |issue= 6960 |pages= 805–11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Hänzelmann P, Hernández HL, Menzel C, "et al." |title=Characterization of MOCS1A, an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis. |journal=J. Biol. Chem. |volume=279 |issue= 33 |pages= 34721–32 |year= 2004 |pmid= 15180982 |doi= 10.1074/jbc.M313398200
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Ichida K, Aydin HI, Hosoyamada M, "et al." |title=A Turkish case with molybdenum cofactor deficiency. |journal=Nucleosides Nucleotides Nucleic Acids |volume=25 |issue= 9-11 |pages= 1087–91 |year= 2007 |pmid= 17065069 |doi= 10.1080/15257770600894022

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