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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Methylmalonic aciduria type A protein, mitochondrial; mutant adenosylcobalamin
基因别名: cblA; MMAA
UniProt ID: (Human) Q8IVH4
Entrez Gene ID: (Human) 166785