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mmaa

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Official Full Name
methylmalonic aciduria (cobalamin deficiency) cblA type
Background
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.
Synonyms
MMAA; methylmalonic aciduria (cobalamin deficiency) cblA type; methylmalonic aciduria (cobalamin deficiency) type A; methylmalonic aciduria type A protein, mitochondrial; cblA; mitochondrial; Methylmalonic aciduria type A protein; Methylmalonic aciduria type A protein mitochondrial; MGC120010; MGC120011; MGC120012; MGC120013; MMAA_HUMAN; OTTHUMP00000220105; OTTHUMP00000220104; zgc:171657; methylmalonic aciduria type A