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DBT - dihydrolipoamide branched chain transacylase E2

  • Synonym(s) : dihydrolipoyllysine-residue (2-methylpropanoyl)transferase, lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
  • Previous symbols and names : dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)
  • Type : gene with protein product
  • Chromosomal location : 1p21.2
  • OMIM: 248610
  • HGNC: 2698
  • UniProtKB: P11182
  • Genatlas: DBT
  • Ensembl: ENSG00000137992
  • IUPHAR-DB: -
  • Reactome: P11182
  • LOVD: DBT

Diseases list

  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test


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