Aliases for HSD3B2 Gene
- Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 2 2 3 5
- 3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type II 3 4
- 3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type 2 3 4
- Short Chain Dehydrogenase/Reductase Family 11E, Member 2 2 3
- 3-Beta-HSD Adrenal And Gonadal Type 3 4
- 3-Beta-HSD II 3 4
- SDR11E2 2 3
- 3 Beta-Hydroxysteroid Dehydrogenase Type II, Delta 5-Delta 4-Isomerase Type II, 3 Beta-HSD Type II 3
External Ids for HSD3B2 Gene
Previous GeneCards Identifiers for HSD3B2 Gene
The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
GeneCards Summary for HSD3B2 Gene
HSD3B2 (Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 2) is a Protein Coding gene. Diseases associated with HSD3B2 include Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency and 3-Beta-Hydroxysteroid Dehydrogenase Deficiency. Among its related pathways are Metabolism of steroid hormones and Androstenedione and testosterone biosynthesis and metabolism p.1. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and coenzyme binding. An important paralog of this gene is HSD3B1.
UniProtKB/Swiss-Prot Summary for HSD3B2 Gene
3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids.