Molybdenum cofactor biosynthesis protein 1 is a protein that in humans and other animals, fungi, and cellular slime molds, is encoded by the MOCS1 gene .[ 5] [ 6] [ 7] [ 8]
Both copies of this gene are defective in patients with molybdenum cofactor deficiency , type A.[ 8]
Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in molybdopterin 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.
^ a b c GRCh38: Ensembl release 89: ENSG00000124615 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000064120 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "MOCS1 - Gene - NCBI" . www.ncbi.nlm.nih.gov . Retrieved 19 July 2018 .^ 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 . S2CID 23833158 . ^ 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 . ^ a b "Entrez Gene: MOCS1 molybdenum cofactor synthesis 1" .
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