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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for BCKDHA (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID593
Official gene symbolBCKDHA
Full namebranched chain keto acid dehydrogenase E1, alpha polypeptide
Aliases,BCKDE1A,FLJ45695,MSU,MSUD1,OVD1A,
Gene summaryThe 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.
LocationChromosome: 19   Locus: 19q13.1-q13.2
Gene position41903694 - 41930910  Map Viewer
Gene orientationplus
Gene size27217 bp
Gene sequence
OMIM ID608348