dihydrolipoamide branched chain transacylase E2

Preferred Label : dihydrolipoamide branched chain transacylase E2;

Approved symbol HGNC : DBT;

Name synonyms HGNC : branched chain 2-oxo-acid dehydrogenase complex component E2; dihydrolipoyllysine-residue (2-methylpropanoyl)transferase; lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex; mitochondrial;

Alias symbols HGNC : BCOADC-E2; BCKDH-E2; BCKAD-E2;

Chromosome HGNC : 1p21.2;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000137992;

Details

Origin ID

HGNC:2698;

UMLS CUI

C1413925;

Automatic exact mappings (from CISMeF team)
- Dihydrolipoamide branched-chain transacylase [OMIM gene]
- Mitochondrial inheritance [HPO term]
- Mitochondrion [NCIt concept]
- Muscular Dystrophy Secondary to Mitochondrial Disorder [NCIt concept]
- NADH:ubiquinone oxidoreductase core subunit S3 [ORDO Gene]
- dihydrolipoamide branched chain transacylase E2 [ORDO Gene]
OMIM gene
- Dihydrolipoamide branched-chain transacylase [OMIM gene]
Orphanet gene
- dihydrolipoamide branched chain transacylase E2 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Dihydrolipoamide branched-chain transacylase [OMIM gene]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients