Search for a gene
DLD - dihydrolipoamide dehydrogenase
- Synonym(s) : DLDH, E3, E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex, OGDC-E3
- Previous symbols and names : GCSL, LAD, dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)
- Type : gene with protein product
- Chromosomal location : 7q31.1
- OMIM: 238331
- HGNC: 2898
- UniProtKB: P09622
- Genatlas: DLD
- GenCC: DLD
- Ensembl: ENSG00000091140
- IUPHAR-DB: -
- Reactome: P09622
- LOVD: DLD
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Pyruvate dehydrogenase E3 deficiency
ORPHA:2394 
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on 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.