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DBT

Gene

dihydrolipoamide branched chain transacylase E2

HGNCHGNC:2698EnsemblENSG00000137992NCBI Gene1629
Locus: gene with protein productLocation: 1p21.2

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asBCOADC-E2 · BCKAD-E2 · BCKDH-E2
View full nomenclature history (7)
Alias symbolsBCOADC-E2, BCKAD-E2, BCKDH-E2
Previous namesdihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)
Alias namesdihydrolipoyllysine-residue (2-methylpropanoyl)transferase, branched chain 2-oxo-acid dehydrogenase complex component E2, lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Seizures
Genetic Diseases, Inborn

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Branched chain alpha-keto acid dehydrogenase complex subunits

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2024-12-06.
Open TargetsGene–disease associations from the Open Targets Platform.