Recombinant Human 3 beta-hydroxysteroid dehydrogenase/Delta 5–>4-isomerase type 2 (HSD3B2), Truncated

Uniprot Id

P26439

Target Species

Human

Target Name

HSD3B2

Target Full Name

3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2

Target Function

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.

Target Involvement

Adrenal hyperplasia 2 (AH2)

Target Subcellular Location

Endoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion membrane; Single-pass membrane protein.

Target Protein Families

3-beta-HSD family

Target Tissue Specificity

Expressed in adrenal gland, testis and ovary.

Target Synonyms

HSD3B2; HSDB3B; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II; 3-beta-HSD II; 3-beta-HSD adrenal and gonadal type [Includes: 3-beta-hydroxy-Delta(5-steroid dehydrogenase; 3-beta-hydroxy-5-ene steroid dehydrogenase; Progesterone reductase; Steroid Delta-isomerase; Delta-5-3-ketosteroid isomerase]

Target 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.