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HSD17B4 - hydroxysteroid 17-beta dehydrogenase 4
- Synonym(s) : 17beta-estradiol dehydrogenase type IV, 17-beta-HSD IV, 17-beta-hydroxysteroid dehydrogenase 4, 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest -24-enoyl-CoA hydratase, beta-hydroxyacyl dehydrogenase, beta-keto-reductase, D-3-hydroxyacyl-CoA dehydratase, D-bifunctional protein, peroxisomal, DBP, MFE-2, peroxisomal multifunctional protein 2, SDR8C1, short chain dehydrogenase/reductase family 8C, member 1
- Previous symbols and names : hydroxysteroid (17-beta) dehydrogenase 4
- Type : gene with protein product
- Chromosomal location : 5q23.1
- OMIM: 601860
- HGNC: 5213
- UniProtKB: P51659
- Genatlas: HSD17B4
- GenCC: HSD17B4
- Ensembl: ENSG00000133835
- IUPHAR-DB: -
- Reactome: P51659
- LOVD: HSD17B4
Diseases list
- Disease-causing germline mutation(s) in Bifunctional enzyme deficiency
ORPHA:300 
- Disease-causing germline mutation(s) in Perrault syndrome
ORPHA:2855
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
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