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Gene : DBT Homo sapiens

Name  ? dihydrolipoamide branched chain transacylase E2 Cytological Location  1p21.2
Brief Description  dihydrolipoamide branched chain transacylase E2
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 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]
  • synonyms:
  • BCKAD-E2,
  • E2,
  • NM_001918,
  • DBT,
  • HGNC:2698,
  • OTTHUMG00000010921,
  • BCKADE2,
  • E2B,
  • uc001dta.4,
  • BCATE2,
  • dihydrolipoyllysine-residue (2-methylpropanoyl)transferase,
  • BCOADC-E2,
  • BC016675,
  • dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease),
  • lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
  • identifiers:
  • 1629,
  • ENSG00000137992,
  • DBT

Genome feature

Region: gene ? Length: 62946  
Location: 1:100186919-100249864 reverse strand Cyto location: 1p21.2


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Disease

1 Diseases

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3753 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results