产品名称
3BHS2 Rabbit Polyclonal Antibody
蛋白名称
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 (EC 1.1.1.145) (3-beta-hydroxy-5-ene steroid dehydrogenase) (Progesterone reductase); Steroid Delta-isomerase (EC 5.3.3.1) (Delta-5-3-ketosteroid isomerase)]
存储缓冲液
Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.
Human Swissprot No.
P26439
Human Swissprot Link
https://www.uniprot.org/uniprotkb/P26439/entry
Mouse Swissprot No.
P26149
Mouse Swissprot Link
http://www.uniprot.org/uniprot/P26149
Rat Swissprot Link
http://www.uniprot.org/uniprot/O54941P22072
免疫原
Synthesized peptide derived from human protein . at AA range: 180-260
特异性
3BHS2 Polyclonal Antibody detects endogenous levels of protein.
稀释度
WB 1:500-2000 ELISA 1:5000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Expressed in adrenal gland, testis and ovary.
细胞定位
Endoplasmic reticulum membrane ; Single-pass membrane protein . Mitochondrion membrane; Single-pass membrane protein .
信号通路
Steroid hormone biosynthesis;Androgen and estrogen metabolism;
功能
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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.