HSD3B2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human HSD3B2 wild-type allele is located in the vicinity of 1p13.1 and is approximately 8 kb in length. This allele, which encodes 3 beta-hydroxysteroid dehydrogenase/delta 5->4-isomerase type 2 protein, is involved in the oxidative conversion of ketosteroids during the biosynthesis of hormonal steroids. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency.

**Synonyms:** - HSD3B - HSDB - HSDB3B - Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- and Steroid Delta-Isomerase wt Allele - SDR11E2