MMAA( Human )

Entrez Gene 166785 Entrez Gene 166785
methylmalonic aciduria (cobalamin deficiency) cblA type

Alias

cblA

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].

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