DISEASES

Disease-gene associations mined from literature

Literature associating MMACHC and organic acidemia

MMACHC [ENSP00000383840]

Methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria; 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. 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.

Synonyms:  MMACHC,  Q9Y4U1,  Q9Y4U1p,  hQ9Y4U1,  25974 ...

Linkouts:  STRING  Pharos  UniProt  OMIM