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Immunogen sequence: ERGHKLSVLA VDPSSCTSGG SLLGDKTRMT ELSRDMNAYI RPSPTRGTLG GVTRTTNEAI LLCEGAGYDI ILIETVGVGQ SEFAVAD
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