QuickView for E2B;jsessionid=872908D34B694CC7B5286BE2D6200EEB;jsessionid=B5A4E64280282ADFA076974F58CE6964 (gene)

Gene Symbol:

DBT Homo sapiens

Full name:

dihydrolipoamide branched chain transacylase E2

Synonyms:

BCATE2, BCKAD-E2, BCKADE2, BCOADC-E2, E2, E2B, lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial, 52 kDa mitochondrial autoantigen of primary biliary cirrhosis, BCKAD E2 subunit, E2 component of branched chain alpha-keto acid dehydrogenase complex, branched chain 2-oxo-acid dehydrogenase complex component E2, branched chain acyltransferase, E2 component, branched-chain alpha-keto acid dehydrogenase complex component E2, dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, dihydrolipoyl transacylase, dihydrolipoyllysine-residue (2-methylpropanoyl)transferase, lipoamide acyltransferase component of mitochondrial branched-chain alpha-keto acid dehydrogenase complex, mitochondrial branched chain alpha-keto acid dehydrogenase transacylase subunit (E2b)

Genomic Location:

Chr 1: 100425066-100487997

Description:

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 regula...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Bos taurus ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TAGGTCA_MIR192_MIR215 ,  TGCAAAC_MIR452 ,  TGGTGCT_MIR29A_MIR29B_MIR29C

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-192 ,  Predicted Gene Targets for miR-9 ,  Predicted Gene Targets for miR-29 ,  Predicted Gene Targets for miR-452

Cytogenetic Map:

1p21.2

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