ALEXA FLUOR 350 Rabbit anti-Human, Mouse, Rat cblA Polyclonal Antibody, ALEXA FLUOR 350 Conjugated [IgG]

mitochondrial; cblA; MMAA protein; Methylmalonic aciduria cobalamin deficiency cblA type; Methylmalonic aciduria cobalamin deficiency type A; Methylmalonic aciduria type A protein; Methylmalonic aciduria type A protein mitochondrial; MMAA; MMAA_HUMAN.

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].