Gene Symbol | MOCS1 |
Entrez Gene ID | 4337 |
Full Name | molybdenum cofactor synthesis 1 |
Synonyms | MIG11,MOCOD,MOCS1A,MOCS1B |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
Summary | Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in this pathway. 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, whereas additional splice variants are likely to produce a fusion between the two open reading frames. This gene is defective in patients with molybdenum cofactor deficiency, type A. A related pseudogene has been identified on chromosome 16. [provided by RefSeq, Nov 2017]. |
Disorder MIM: | |
Disorder Html: | Molybdenum cofactor deficiency A, 252150 (3) |