Disease-gene associations mined from literature

Literature associating MMADHC and methylmalonic acidemia cblA type

MMADHC [ENSP00000389060]

Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria; Involved in cobalamin metabolism. Plays a role in regulating the biosynthesis of two coenzymes, methylcobalamin and adenosylcobalamin. Plays a role in regulating the proportion of methylcobalamin and adenosylcobalamin. Promotes oxidation of cob(II)alamin bound to MMACHC.

Synonyms:  MMADHC,  F8WEC0,  Q9H3L0,  C2orf25,  CL25022 ...

Linkouts:  STRING  Pharos  UniProt