Synonyms: Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 2,3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type II,Short Chain Dehydrogenase/Reductase Family 11E, Member 2,3-Beta-HSD Adrenal And Gonadal Type,3-Beta-HSD II,3 Beta-Hydroxysteroid Dehydrogenase Type II, Delta 5-Delta 4-Isomerase Type II, 3 Beta-HSD Type II,3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type 2,3-Beta-Hydroxy-Delta(5)-Steroid Dehydrogenase,3-Beta-Hydroxy-5-Ene Steroid Dehydrogenase.
Background: 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.