Literature associating MMADHC and hypertrophic cardiomyopathy 1
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 ...