DBT

GENE INFORMATION

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Gene name

DBT

Synonyms

Description

Dihydrolipoamide branched chain transacylase E2 (HGNC Symbol)

Entrez gene summary

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. [provided by RefSeq, Jul 2008]

Chromosome

1

Cytoband

p21.2

Chromosome location (bp)

100186919 - 100249834

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000137992 (version 78.38)

Entrez gene

1629

UniProt

P11182 (UniProt - Evidence at protein level)

neXtProt

NX_P11182

Antibodypedia

DBT antibodies
 

PROTEIN VIEW

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DBT-001
 
DBT-002
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DBT-001 ENSP00000359151
ENST00000370132
P11182
Show all »
Show » Show » 482 53.5 No 0
DBT-002 ENSP00000359150
ENST00000370131
Q5VVL7
Show all »
Show » Show » 320 36.2 No 0