Search for a gene
EHHADH - enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
- Synonym(s) :
- Previous symbols and names : ECHD, Enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase
- Type : gene with protein product
- Chromosomal location : 3q27.2
- OMIM: 607037
- HGNC: 3247
- UniProtKB: Q08426
- Genatlas: EHHADH
- Ensembl: ENSG00000113790
- IUPHAR-DB: -
- Reactome: Q08426
- LOVD: EHHADH
Diseases list
- Disease-causing germline mutation(s) in Bifunctional enzyme deficiency
ORPHA:300 
- Disease-causing germline mutation(s) in Primary Fanconi renotubular syndrome
ORPHA:3337
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Health care 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.