2024年12月25日 · Complete information for HSD3B2 gene (Protein Coding), Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 2, including: function, proteins, disorders, pathways, orthologs, and expression.

HSD3B2 is a human gene that encodes for 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase type II or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2. [5] It is expressed principally in steroidogenic tissues and is essential for steroid hormone production. [6]

Sequencing analyses indicate homozygous p.W355R mutation at exon 4 of the 3 beta-hydroxysteroid dehydrogenase type II (HSD3beta2) gene in both siblings. the first HSD3B2 gene mutation in the Italian population and analyzed its effect in the context of the 3beta-HSD2 structure and function.

2023年4月25日 · 3β-羟基类固醇脱氢酶 ii 型缺乏症（hsd3b2 缺乏症）是一种罕见的先天性肾上腺增生症 (cah)，其特征是男性有不同程度的失盐和不完全男性化，女性有轻度男性化或外生殖器正常。

Clinical resource with information about HSD3B2, 3 beta-Hydroxysteroid dehydrogenase deficiency, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

2025年2月19日 · Gene ID: 15493, updated on 19-Feb-2025. Predicted to enable 3-beta-hydroxy-delta5-steroid dehydrogenase (NAD+) activity and steroid delta-isomerase activity. Predicted to be involved in C21-steroid hormone biosynthetic process; androgen biosynthetic process; and negative regulation of iron ion transport.

The HSD3B2 gene provides instructions for making the 3-beta-hydroxysteroid dehydrogenase (3β-HSD) enzyme. This enzyme is found in the gonads, which are the ovaries in females and testes in males, and in the adrenal glands, which are located on top of the kidneys.

关于 hsd3b2 Cytogenetic location: 1p12 Genomic coordinates (GRCh38): 1:119,414,931-119,423,034 (from NCBI) This gene has 6 transcripts (splice variants), 370 orthologues, 10 paralogues and is associated with 2 phenotypes.

HSD3B2的详细信息，包括基因名称，代码，染色体位置，相互作用关系和通路，简述为由该基因编码的蛋白质是一种催化增量（5） - 烯-3--β-羟基类固醇氧化转化，以及ketosteroids氧化转化的双功能酶。

New insight into the molecular basis of 3-beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene in eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.