DBT (gene)

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; OMA:DBT - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	100,249,834 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	116,343,630 bp
RNA expression pattern
	Top expressed in
	buccal mucosa cell; ; renal medulla; ; endothelial cell; ; cardia; ; ventral tegmental area; ; nipple; ; pylorus; ; trigeminal ganglion; ; external globus pallidus; ; inferior ganglion of vagus nerve;
	Top expressed in
	brown adipose tissue; ; parotid gland; ; intercostal muscle; ; left lobe of liver; ; lacrimal gland; ; epithelium of stomach; ; retinal pigment epithelium; ; human kidney; ; right kidney; ; myocardium of ventricle;
	More reference expression data
	; ; ; ;
	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
	1629
	13171
	ENSG00000137992
	ENSMUSG00000000340
	P11182
	P53395
	NM_001918
	NM_010022; NM_001357344
	NP_001909
	NP_034152; NP_001344273
	Wikidata
View/Edit Human	View/Edit Mouse

Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial is an enzyme that in humans is encoded by the DBT gene.

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.