DISEASES

Disease-gene associations mined from literature

Literature associating MMACHC and hyperhomocysteinemia

MMACHC [ENSP00000383840]

Methylmalonic aciduria and homocystinuria type C protein; Catalyzes the reductive dealkylation of cyanocobalamin to cob(II)alamin, using FAD or FMN as cofactor and NADPH as cosubstrate . Can also catalyze the glutathione-dependent reductive demethylation of methylcobalamin, and, with much lower efficiency, the glutathione-dependent reductive demethylation of adenosylcobalamin (PubMed:19801555, PubMed:22642810, PubMed:25809485). Under anaerobic conditions cob(I)alamin is the first product; it is highly reactive and is converted to aquocob(II)alamin in the presence of oxygen . Binds cyanocobalamin, adenosylcobalamin, methylcobalamin and other, related vitamin B12 derivatives . ECO:0000269|PubMed:19801555, ECO:0000269|PubMed:21071249, ECO:0000269|PubMed:21697092, ECO:0000269|PubMed:22642810,

Synonyms:  MMACHC,  A0A0C4DGU2,  Q9Y4U1,  Q9Y4U1p,  hQ9Y4U1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM