Disease-gene associations mined from literature

Literature associating MOCS1 and biotinidase deficiency

MOCS1 [ENSP00000362282]

Molybdenum cofactor synthesis-step 1 protein A-B; Isoform MOCS1A and isoform MOCS1B probably form a complex that catalyzes the conversion of 5'-GTP to cyclic pyranopterin monophosphate (cPMP). MOCS1A catalyzes the cyclization of GTP to (8S)-3',8-cyclo-7,8-dihydroguanosine 5'- triphosphate and MOCS1B catalyzes the subsequent conversion of (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate to cPMP; In the N-terminal section; belongs to the radical SAM superfamily. MoaA family.

Synonyms:  MOCS1,  MOCS1p,  hMOCS1,  A0A024RD17,  F8WCK1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM