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Hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4)

Target: HSD17B4
Molecular classification: Enzyme, Short chain dehydrogenase/reductase (SDR) family protein, Peroxisomal enzyme

Overview

Hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4) is a peroxisomal bifunctional enzyme involved in the beta-oxidation of fatty acids, with distinct hydratase and dehydrogenase domains enabling two consecutive steps of fatty acid degradation within peroxisomes. This protein, which is essential for breaking down very long-chain and branched-chain fatty acids into acetyl-CoA, is encoded by the HSD17B4 gene on chromosome 5 and is critical for normal cellular lipid metabolism. Deficiency or loss-of-function mutations in HSD17B4 lead to metabolic disorders, most notably D-bifunctional protein deficiency (a severe neurodegenerative disorder presenting with leukodystrophy) and Perrault syndrome (characterized by hearing loss and fertility issues in females)

Other names: 17-beta-HSD 417-beta-HSD IV17-beta-hydroxysteroid dehydrogenase 417beta-estradiol dehydrogenase type IV3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratasebeta-hydroxyacyl dehydrogenasebeta-keto-reductaseD-3-hydroxyacyl-CoA dehydrataseD-bifunctional protein, peroxisomalDBPhydroxysteroid (17-beta) dehydrogenase 4MFE-2MPF-2MFP-2multifunctional protein 2peroxisomal multifunctional enzyme type 2peroxisomal multifunctional protein 2PRLTS1SDR8C1short chain dehydrogenase/reductase family 8C member 1epididymis secretory sperm binding proteinEDH17B4

Biological functions

Fatty acid beta-oxidation (catabolism of fatty acids)Peroxisomal lipid metabolismBile acid and bile salt metabolismOxidoreductase activity (dehydrogenase and hydratase steps)

Disease associations

D-bifunctional protein deficiency (severe disorder presenting as neurodegeneration and leukodystrophy)Perrault syndrome (hearing loss and, in females, ovarian dysfunction)Other metabolic disorders related to peroxisome dysfunction

Safety considerations

Loss of HSD17B4 activity leads to neurodegeneration (leukodystrophy), abnormal brain development, and myelin breakdown in D-bifunctional protein deficiencyMutations can cause hearing loss, ovarian dysfunction, and developmental delay in Perrault syndromeNo known safety concerns relate to therapeutic targeting as HSD17B4 currently lacks drug modulators

Biomarkers

HSD17B4 gene mutation status (used in diagnosis of D-bifunctional protein deficiency and Perrault syndrome)Accumulation of very long-chain fatty acids (as metabolic biomarker of deficiency)

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