MMAB( Human )

Entrez Gene 326625 Entrez Gene 326625
methylmalonic aciduria (cobalamin deficiency) cblB type

Alias

ATR|CFAP23|cblB|cob

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].

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