{"symbol":"MMAB","synonyms":["COB","cblB","CFAP23"],"name":"methylmalonic aciduria (cobalamin deficiency) cblB type","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]","ncbiEntrezGeneId":326625,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/326625","proteins":[{"symbol":"MMAB_HUMAN","href":"/api/1.0/protein/MMAB_HUMAN"}],"hgncRootFamilies":[]}