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).

2025年3月30日 · 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.

在基于ART1的小分子工具的辅助下，化学蛋白质组学分析确定了HSD17B4蛋白是ART1的直接靶标。 HSD17B4存在于过氧化物酶体中，是超长链脂肪酸分解代谢中的必需酶。 Artemisinin and its derivatives, commonly known as antimalarial drugs, have gradually come to be regarded as potential antitumor agents, although their cytotoxic efficacy and …

该基因中影响过氧化物酶体脂肪酸 β-氧化活性的缺陷是 D-双功能蛋白缺乏症 (DBPD) 的一个原因。 该基因的明显假基因存在于 8 号染色体上。 已发现该基因编码不同同种型的多个可变剪接转录物变体。 [RefSeq 提供，2014 年 5 月] The protein encoded by this gene is a bifunctional Enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids.

In HEK293 cells, the D-bifunctional protein (HSD17B4) and the peroxisomal ABC transporter ABCD3 are essential in peroxisomal oxidation of lauric and palmitic acid. HSD17B4 overexpression increased STAT3 activation. This study reveals a crosstalk between acetylation and chaperone-mediated autophagy degradation in HSD17B4 regulation.

The HSD17B4 gene provides instructions for making the D-bifunctional protein. This protein is an enzyme, which means that it helps specific biochemical reactions take place. D-bifunctional protein is so named because it aids in two biochemical reactions.

hydroxysteroid (17-beta) dehydrogenase 4 [Source:HGNC Symbol;Acc: 5213] DBP, EDH17B4, MFE-2, MPF-2, PRLTS1, SDR8C1. Chromosome 5: 118,788,138-118,972,894 forward strand. GRCh37:CM000667.1. This gene has 27 transcripts (splice variants), 2 paralogues and is associated with 6 phenotypes.

2019年6月1日 · 17β-Hydroxysteroid dehydrogenases (HSD17B) catalyze the oxidation/reduction of 17β-hydroxy/keto group in position C17 in C18- and C19 steroids. Most HSD17Bs are also catalytically active with substrates other than steroids. A subset of these enzymes is able to process thioesters of carboxylic acids.

Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.

2024年12月9日 · 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.