Gene: MOCS1

Alternate names for this Gene: MIG11|MOCOD|MOCS1A|MOCS1B

Gene 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.2

Description of this Gene: molybdenum cofactor synthesis 1

Type of Gene: protein-coding

rs41273140 in MOCS1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs104893969 in MOCS1 gene and Molybdenum Cofactor Deficiency, Complementation Group A PMID 9921896 1998 Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.

PMID 9731530 1998 Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency.

PMID 16021469 2005 Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.

PMID 12754701 2003 Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.