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EHHADH - enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
- Synonym(s) :
- Previous symbols and names : 'enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase', 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
- GenCC: 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
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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