MOCS2

From Wikipedia, the free encyclopedia

Molybdenum cofactor synthesis 2

Identifiers

MOCS2; MCBPE; MOCO1; MOCS2A; MOCS2B; MPTS

External IDs

OMIM: 603708 MGI: 1336894 HomoloGene: 32193

Gene ontology
Molecular Function:	• molecular_function • catalytic activity • identical protein binding
Cellular Component:	• molybdopterin synthase complex
Biological Process:	• Mo-molybdopterin cofactor biosynthetic process • sulfur metabolic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_004531 (mRNA)
NP_004522 (protein)

NM_013826 (mRNA)
NP_038854 (protein)

Location

Chr 5: 52.43 - 52.44 Mb

Chr 13: 115.94 - 115.95 Mb

Pubmed search

[1]

[2]

Molybdenum cofactor synthesis 2, also known as MOCS2, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: MOCS2 molybdenum cofactor synthesis 2.

[edit] Further reading

Reiss J, Johnson JL (2003). "Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.". Hum. Mutat. 21 (6): 569-76. doi:10.1002/humu.10223. PMID 12754701.
Krawczak M, Reiss J, Cooper DN (1992). "The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences.". Hum. Genet. 90 (1-2): 41-54. PMID 1427786.
Reiss J, Cohen N, Dorche C, et al. (1998). "Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency.". Nat. Genet. 20 (1): 51-3. doi:10.1038/1706. PMID 9731530.
Feng G, Tintrup H, Kirsch J, et al. (1998). "Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity.". Science 282 (5392): 1321-4. PMID 9812897.
Sloan J, Kinghorn JR, Unkles SE (1999). "The two subunits of human molybdopterin synthase: evidence for a bicistronic messenger RNA with overlapping reading frames.". Nucleic Acids Res. 27 (3): 854-8. PMID 9889283.
Stallmeyer B, Drugeon G, Reiss J, et al. (1999). "Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames.". Am. J. Hum. Genet. 64 (3): 698-705. PMID 10053003.
Reiss J, Dorche C, Stallmeyer B, et al. (1999). "Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.". Am. J. Hum. Genet. 64 (3): 706-11. PMID 10053004.
Johnson JL, Coyne KE, Rajagopalan KV, et al. (2002). "Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency.". Am. J. Med. Genet. 104 (2): 169-73. PMID 11746050.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932.
Leimkuhler S, Freuer A, Araujo JA, et al. (2003). "Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency.". J. Biol. Chem. 278 (28): 26127-34. doi:10.1074/jbc.M303092200. PMID 12732628.
Matthies A, Rajagopalan KV, Mendel RR, Leimkühler S (2004). "Evidence for the physiological role of a rhodanese-like protein for the biosynthesis of the molybdenum cofactor in humans.". Proc. Natl. Acad. Sci. U.S.A. 101 (16): 5946-51. doi:10.1073/pnas.0308191101. PMID 15073332.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334.
Leimkühler S, Charcosset M, Latour P, et al. (2005). "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.". Hum. Genet. 117 (6): 565-70. doi:10.1007/s00439-005-1341-9. PMID 16021469.
Hahnewald R, Leimkühler S, Vilaseca A, et al. (2006). "A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase.". Mol. Genet. Metab. 89 (3): 210-3. doi:10.1016/j.ymgme.2006.04.008. PMID 16737835.
Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.". Nat. Biotechnol. 24 (10): 1285-92. doi:10.1038/nbt1240. PMID 16964243.
Per H, Gümüş H, Ichida K, et al. (2007). "Molybdenum cofactor deficiency: clinical features in a Turkish patient.". Brain Dev. 29 (6): 365-8. doi:10.1016/j.braindev.2006.10.007. PMID 17158010.