Search results for abx034519

Methylmalonic Aciduria Type A Protein, Mitochondrial (MMAA) Antibody, Abbexa, abx034519

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.