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 …

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 …

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 …

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, …

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

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 …

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) …

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 …

Dec 9, 2024 · Clinical resource with information about HSD17B4, Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1, and available tests. There are links to practice …