DBT
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1K8M, 1K8O, 1ZWV, 2COO, 3RNM
Identifiers
Aliases	DBT, BCATE2, BCKAD-E2, BCKADE2, E2, E2B, BCOADC-E2, dihydrolipoamide branched chain transacylase E2, BCKDH-E2
External IDs	OMIM: 248610 MGI: 105386 HomoloGene: 1444 GeneCards: DBT
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p21.2 Start 100,186,919 bp[1] End 100,249,834 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 G1|3 50.37 cM Start 116,306,719 bp[2] End 116,343,630 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in renal medulla endothelial cell cardia ventral tegmental area nipple pylorus trigeminal ganglion external globus pallidus inferior ganglion of vagus nerve subthalamic nucleus Top expressed in brown adipose tissue parotid gland intercostal muscle left lobe of liver lacrimal gland epithelium of stomach retinal pigment epithelium kidney myocardium of ventricle proximal tubule More reference expression data BioGPS More reference expression data
Gene ontology Molecular function acyltransferase activity ubiquitin protein ligase binding transferase activity dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity acetyltransferase activity lipoic acid binding Cellular component mitochondrial matrix mitochondrial alpha-ketoglutarate dehydrogenase complex mitochondrial nucleoid mitochondrion cytoplasm Biological process metabolism branched-chain amino acid catabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1629 13171 Ensembl ENSG00000137992 ENSMUSG00000000340 UniProt P11182 P53395 RefSeq (mRNA) NM_001918 NM_010022 NM_001357344 RefSeq (protein) NP_001909 NP_034152 NP_001344273 Location (UCSC) Chr 1: 100.19 – 100.25 Mb Chr 3: 116.31 – 116.34 Mb PubMed search [3] [4]
Wikidata
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Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial is an enzyme that in humans is encoded by the DBT gene.^[5][6][7]

The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.^[7]