Aliases for MOCS1 Gene
External Ids for MOCS1 Gene
Previous GeneCards Identifiers for MOCS1 Gene
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, whose full-length natures have yet to be determined, 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, Jan 2010]
GeneCards Summary for MOCS1 Gene
MOCS1 (Molybdenum Cofactor Synthesis 1) is a Protein Coding gene. Diseases associated with MOCS1 include molybdenum cofactor deficiency a and sulfite oxidase deficiency due to molybdenum cofactor deficiency type a. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include GTP binding and lyase activity.
UniProtKB/Swiss-Prot for MOCS1 Gene
Isoform MOCS1A and isoform MOCS1B probably form a complex that catalyzes the conversion of 5-GTP to cyclic pyranopterin monophosphate (cPMP or molybdopterin precursor Z).