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.
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Protein Aliases: cblA; methylmalonic aciduria type A protein; Methylmalonic aciduria type A protein, mitochondrial; mitochondrial; mutant adenosylcobalamin
Gene Aliases: cblA; MMAA
UniProt ID: (Human) Q8IVH4
Entrez Gene ID: (Human) 166785