Orphanet: Genes

Search for a gene

* (*) mandatory field

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

Diseases list

  : Assessed

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

Additional information

Patient-centred resources for this gene

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.