{"symbol":"MMAA","synonyms":["CBLA"],"name":"methylmalonic aciduria (cobalamin deficiency) cblA type","description":"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]","ncbiEntrezGeneId":166785,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/166785","proteins":[{"symbol":"MMAA_HUMAN","href":"/api/1.0/protein/MMAA_HUMAN"}],"hgncRootFamilies":[]}