MOCS1

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Molybdenum cofactor synthesis 1
Identifiers
Symbols MOCS1 ; MIG11; MOCOD
External IDs OMIM603707 MGI1928904 HomoloGene129502 GeneCards: MOCS1 Gene
EC number 4.1.99.18
RNA expression pattern
PBB GE MOCS1 211673 s at tn.png
PBB GE MOCS1 213181 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4337 56738
Ensembl ENSG00000124615 ENSMUSG00000064120
UniProt Q9NZB8 n/a
RefSeq (mRNA) NM_001075098 XM_001003122
RefSeq (protein) NP_001068566 XP_001003122
Location (UCSC) Chr 6:
39.87 – 39.9 Mb
Chr 17:
48.89 – 48.92 Mb
PubMed search [1] [2]

Molybdenum cofactor biosynthesis protein 1 is a protein that in humans is encoded by the MOCS1 gene.[1] [2] [3]

Both copies of this gene are defective in patients with molybdenum cofactor deficiency, type A.[3]

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.

References[edit]

  1. ^ Reiss J, Cohen N, Dorche C, Mandel H, Mendel RR, Stallmeyer B, Zabot MT, Dierks T (Oct 1998). "Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency". Nat Genet 20 (1): 51–3. doi:10.1038/1706. PMID 9731530. 
  2. ^ Reiss J, Dorche C, Stallmeyer B, Mendel RR, Cohen N, Zabot MT (Apr 1999). "Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B". Am J Hum Genet 64 (3): 706–11. doi:10.1086/302296. PMC 1377787. PMID 10053004. 
  3. ^ a b "Entrez Gene: MOCS1 molybdenum cofactor synthesis 1". 

Further reading[edit]