Description
Product Characteristics:
Synonyms: Cbl-b, RNF56, Nbla00127, E3 ubiquitin-protein ligase CBL-B, Casitas B-lineage lymphoma proto-oncogene b, RING finger protein 56, SH3-binding protein CBL-B, Signal transduction protein CBL-B, CBLB
Target Information: 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]