Enables cobalamin binding activity and corrinoid adenosyltransferase activity. Involved in cobalamin metabolic process. Located in mitochondrion. Implicated in inherited metabolic disorder and methylmalonic acidemia cblB type.
RGD Description
This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]