Synthesized peptide derived from human protein . at AA range: 180-260

3BHS2 Polyclonal Antibody detects endogenous levels of protein.

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)]

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],

Catalytic activity:A 3-beta-hydroxy-Delta(5)-steroid + NAD(+) = a 3-oxo-Delta(5)-steroid + NADH.,Catalytic activity:A 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid.,Disease:Defects in HSD3B2 are the cause of adrenal hyperplasia type 2 (AH2) [MIM:201810]. AH2 is a form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late onset (NC or LOAH), and 'cryptic' (asymptomatic). In AH2, virilization is much less marked or does not occur. AH2 is frequently lethal in early life.,Disease:Mild HSD3B2 deficiency in hyperandrogenic females is associated with characteristic traits of polycystic ovary syndrome, such as insulin resistance and luteinizing hormon hypersecretion.,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.,online information:Congenital adrenal hyperplasia website,pathway:Lipid metabolism; steroid biosynthesis.,sequence Caution:The frameshift is caused by a single nucleotide insertion which is found in AH2.,similarity:Belongs to the 3-beta-HSD family.,tissue specificity:Adrenal glands, testes and ovaries.,

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

Expressed in adrenal gland, testis and ovary.

>>Steroid hormone biosynthesis ;
>>Metabolic pathways ;
>>Ovarian steroidogenesis ;
>>Aldosterone synthesis and secretion ;
>>Cortisol synthesis and secretion ;
>>Cushing syndrome