{"symbol":"BCKDHB","synonyms":["DJ279A18.1","E1B","BCKDH E1-beta","BCKDE1B"],"name":"branched chain keto acid dehydrogenase E1, beta polypeptide","description":"This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016]","ncbiEntrezGeneId":594,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/594","proteins":[{"symbol":"ODBB_HUMAN","href":"/api/1.0/protein/ODBB_HUMAN"}],"hgncRootFamilies":[]}