MOCS1

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MOCS1
Identifiers
Aliases MOCS1, MIG11, MOCOD, MOCODA, molybdenum cofactor synthesis 1
External IDs HomoloGene: 129502 GeneCards: MOCS1
RNA expression pattern
PBB GE MOCS1 211673 s at fs.png

PBB GE MOCS1 213181 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001075098
NM_005942
NM_005943
NM_138928

n/a

RefSeq (protein)

NP_001068566
NP_005934

n/a

Location (UCSC) Chr 6: 39.9 – 39.93 Mb n/a
PubMed search [1] n/a
Wikidata
View/Edit Human

Molybdenum cofactor biosynthesis protein 1 is a protein that in humans is encoded by the MOCS1 gene.[2] [3] [4]

Both copies of this gene are defective in patients with molybdenum cofactor deficiency, type A.[4]

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. ^ "Human PubMed Reference:". 
  2. ^ 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. 
  3. ^ 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 1377787Freely accessible. PMID 10053004. 
  4. ^ a b "Entrez Gene: MOCS1 molybdenum cofactor synthesis 1". 

Further reading[edit]