BCKDHA, Official Symbol BCKDHAprovided by HGNC Official Full Name branched chain keto acid dehydrogenase E1 subunit alphaprovided by HGNC Primary source HGNC:HGNC:986 See related Ensembl:ENSG00000248098 MIM:608348; AllianceGenome:HGNC:986 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 MSU; MSUD1; OVD1A; BCKDE1A Summary The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] Expression Ubiquitous expression in heart (RPKM 29.4), kidney (RPKM 27.9) and 25 other tissues See more Orthologs mouse all