DBT (gene)

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Dihydrolipoamide branched chain transacylase E2
Protein DBT PDB 1k8m.png
PDB rendering based on 1k8m.
Available structures
PDB Ortholog search: PDBe, RCSB
Symbols DBT ; BCATE2; BCKAD-E2; BCKADE2; E2; E2B
External IDs OMIM248610 MGI105386 HomoloGene1444 GeneCards: DBT Gene
EC number
RNA expression pattern
PBB GE DBT 205371 s at tn.png
PBB GE DBT 205369 x at tn.png
PBB GE DBT 205370 x at tn.png
More reference expression data
Species Human Mouse
Entrez 1629 13171
Ensembl ENSG00000137992 ENSMUSG00000000340
UniProt P11182 P53395
RefSeq (mRNA) NM_001918 NM_010022
RefSeq (protein) NP_001909 NP_034152
Location (UCSC) Chr 1:
100.65 – 100.72 Mb
Chr 3:
116.51 – 116.55 Mb
PubMed search [1] [2]

Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial is an enzyme that in humans is encoded by the DBT gene.[1][2][3]

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.[3]


  1. ^ Lau KS, Chuang JL, Herring WJ, Danner DJ, Cox RP, Chuang DT (Dec 1992). "The complete cDNA sequence for dihydrolipoyl transacylase (E2) of human branched-chain alpha-keto acid dehydrogenase complex". Biochim Biophys Acta 1132 (3): 319–21. doi:10.1016/0167-4781(92)90169-z. PMID 1420314. 
  2. ^ Lau KS, Herring WJ, Chuang JL, McKean M, Danner DJ, Cox RP, Chuang DT (Dec 1992). "Structure of the gene encoding dihydrolipoyl transacylase (E2) component of human branched chain alpha-keto acid dehydrogenase complex and characterization of an E2 pseudogene". J Biol Chem 267 (33): 24090–6. PMID 1429740. 
  3. ^ a b "Entrez Gene: DBT dihydrolipoamide branched chain transacylase E2". 

Further reading[edit]