BCKDHB, Official Symbol BCKDHBprovided by HGNC Official Full Name branched chain keto acid dehydrogenase E1 subunit betaprovided by HGNC Primary source HGNC:HGNC:987 See related Ensembl:ENSG00000083123 MIM:248611; AllianceGenome:HGNC:987 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as E1B; OVD1B; BCKDE1B; BCKDH E1-beta Summary 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] Expression Ubiquitous expression in liver (RPKM 2.7), fat (RPKM 2.3) and 25 other tissues See more Orthologs mouse all