Molecular weight (DA)
40kD
Immunogen
Synthesized peptide derived from human protein . at AA range: 180-260
Specificity
3BHS2 Polyclonal Antibody detects endogenous levels of protein.
Formulation
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Dilution rate
WB 1:500-2000 ELISA 1:5000-20000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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. [provided by RefSeq, Oct 2009],
Function
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 no
Protein name
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-
Fields
>>Steroid hormone biosynthesis;>>Metabolic pathways;>>Ovarian steroidogenesis;>>Aldosterone synthesis and secretion;>>Cortisol synthesis and secretion;>>Cushing syndrome
Human protein sequence Database
P26439
Mouse protein sequence database
P26149
Rat protein sequence database
P22072
Cellular localization
Endoplasmic reticulum membrane ; Single-pass membrane protein . Mitochondrion membrane; Single-pass membrane protein .
Tissue expression
Expressed in adrenal gland, testis and ovary.
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