mitochondrial, cblA, MMAA protein, Methylmalonic aciduria cobalamin deficiency cblA type, Methylmalonic aciduria cobalamin deficiency type A, Methylmalonic aciduria type A protein, Methylmalonic aciduria type A protein mitochondrial, MMAA, MMAA_HUMAN.
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. [provided by RefSeq, Jul 2008].
