The HSD17B4 gene encodes an enzyme involved in peroxisomal fatty acid beta-oxidation. It was first identified as a 17-beta-estradiol dehydrogenase (Leenders et al., 1996; van Grunsven et al., 1998).

Mar 30, 2025 · HSD17B4 (Hydroxysteroid 17-Beta Dehydrogenase 4) is a Protein Coding gene. Diseases associated with HSD17B4 include D-Bifunctional Protein Deficiency and Perrault Syndrome 1. Among its related pathways are Peroxisomal lipid metabolism and Bile acid and bile salt metabolism.

The HSD17B4 gene provides instructions for making the D-bifunctional protein. Learn about this gene and related health conditions.

D-bifunctional protein deficiency is caused by variants (also known as mutations) in the HSD17B4 gene. The protein produced from this gene (D-bifunctional protein) is an enzyme, which means that it helps specific biochemical reactions to take place.

HSD17B4 is not only associated with the presence of prostate cancer, but is also a significant independent predictor of poor patient outcome. HSD17B4 mRNA is expressed in human skin, at similar levels in men and women. HSD17B4 levels are …

Mar 18, 2025 · Here, we demonstrate that HSD17B4 deficiency impairs primary ciliogenesis and alters cilia-mediated signaling, suggesting a potential link between peroxisomal metabolism and ciliary function.

The HSD17B4 gene encodes an enzyme involved in peroxisomal fatty acid beta-oxidation. It was first identified as a 17-beta-estradiol dehydrogenase (Leenders et al., 1996; van Grunsven et al., 1998).

Feb 9, 2025 · A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4) expression by HIV-1 Vpr in Vpr transduced macrophages

HSD17B4: Also known as D-bifunctional protein (DBP). Involved in fatty acid β-oxidation and steroid metabolism (specifically estrone to estradiol, for instance in the uterus). [ 20 ] Mutations are associated with DBP deficiency and Perrault syndrome (ovarian dysgenesis and deafness).

Dec 9, 2024 · Clinical resource with information about HSD17B4, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.