DISEASES

Disease-gene associations mined from literature

Literature associating MMADHC and propionic acidemia

MMADHC [ENSP00000389060]

Methylmalonic aciduria and homocystinuria type D protein, mitochondrial; Involved in cobalamin metabolism (PubMed:18385497, PubMed:23415655, PubMed:24722857, PubMed:26364851). 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 . ECO:0000269|PubMed:23415655, ECO:0000269|PubMed:24722857,

Synonyms:  MMADHC,  F8WEC0,  Q9H3L0,  F8WEC0p,  hF8WEC0 ...

Linkouts:  STRING  Pharos  UniProt