2810018E08Rik antibody, AI840684 antibody, cblA antibody, methylmalonic aciduria (cobalamin deficiency) type A antibody, methylmalonic aciduria (cobalamin deficiency) cblA type antibody, Mmaa antibody, MMAA antibody
Background
The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria.Synonyms: MGC120010, MGC120011, MGC120012, Methylmalonic aciduria type A, Methylmalonic aciduria type A protein, mitochondrial