MOCS2

Molybdenum cofactor synthesis 2, also known as MOCS2, is a human gene.cite web | title = Entrez Gene: MOCS2 molybdenum cofactor synthesis 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4338| accessdate = ]

PBB_Summary
section_title =
summary_text = Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits.cite web | title = Entrez Gene: MOCS2 molybdenum cofactor synthesis 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4338| 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=Krawczak M, Reiss J, Cooper DN |title=The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. |journal=Hum. Genet. |volume=90 |issue= 1-2 |pages= 41–54 |year= 1992 |pmid= 1427786 |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=Sloan J, Kinghorn JR, Unkles SE |title=The two subunits of human molybdopterin synthase: evidence for a bicistronic messenger RNA with overlapping reading frames. |journal=Nucleic Acids Res. |volume=27 |issue= 3 |pages= 854–8 |year= 1999 |pmid= 9889283 |doi=
*cite journal | author=Stallmeyer B, Drugeon G, Reiss J, "et al." |title=Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames. |journal=Am. J. Hum. Genet. |volume=64 |issue= 3 |pages= 698–705 |year= 1999 |pmid= 10053003 |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=Johnson JL, Coyne KE, Rajagopalan KV, "et al." |title=Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. |journal=Am. J. Med. Genet. |volume=104 |issue= 2 |pages= 169–73 |year= 2002 |pmid= 11746050 |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=Leimkuhler S, Freuer A, Araujo JA, "et al." |title=Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency. |journal=J. Biol. Chem. |volume=278 |issue= 28 |pages= 26127–34 |year= 2003 |pmid= 12732628 |doi= 10.1074/jbc.M303092200
*cite journal | author=Matthies A, Rajagopalan KV, Mendel RR, Leimkühler S |title=Evidence for the physiological role of a rhodanese-like protein for the biosynthesis of the molybdenum cofactor in humans. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 16 |pages= 5946–51 |year= 2004 |pmid= 15073332 |doi= 10.1073/pnas.0308191101
*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=Leimkühler S, Charcosset M, Latour P, "et al." |title=Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase. |journal=Hum. Genet. |volume=117 |issue= 6 |pages= 565–70 |year= 2005 |pmid= 16021469 |doi= 10.1007/s00439-005-1341-9
*cite journal | author=Hahnewald R, Leimkühler S, Vilaseca A, "et al." |title=A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase. |journal=Mol. Genet. Metab. |volume=89 |issue= 3 |pages= 210–3 |year= 2006 |pmid= 16737835 |doi= 10.1016/j.ymgme.2006.04.008
*cite journal | author=Beausoleil SA, Villén J, Gerber SA, "et al." |title=A probability-based approach for high-throughput protein phosphorylation analysis and site localization. |journal=Nat. Biotechnol. |volume=24 |issue= 10 |pages= 1285–92 |year= 2006 |pmid= 16964243 |doi= 10.1038/nbt1240
*cite journal | author=Per H, Gümüş H, Ichida K, "et al." |title=Molybdenum cofactor deficiency: clinical features in a Turkish patient. |journal=Brain Dev. |volume=29 |issue= 6 |pages= 365–8 |year= 2007 |pmid= 17158010 |doi= 10.1016/j.braindev.2006.10.007

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