The protein encoded by the Beta Hydroxysteroid Dehydrogenases gene is a bifunctional enzyme that catalyzes the oxidative conversion ofdelta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in thebiosynthesis 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. Alternativelyspliced transcript variants have been found for this gene. (provided by RefSeq)
