Recombinant人HSD3B2 protein (ab114767)

常规信息

• 别名
  • 3 beta HSD adrenal and gonadal type
  • 3 beta HSD II
  • 3 beta HSD type II

  • 3 beta hydroxy 5 ene steroid dehydrogenase
  • 3 beta hydroxy Delta(5) steroid dehydrogenase
  • 3 beta hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2
  • 3 beta-hydroxysteroid dehydrogenase type II, delta 5-delta 4-isomerase type II, 3 beta-HSD type II
  • 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II
  • 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2
  • 3-beta-HSD II
  • 3-beta-hydroxy-5-ene steroid dehydrogenase
  • 3-beta-hydroxy-Delta(5)-steroid dehydrogenase
  • 3BHS2_HUMAN
  • ADRENAL HYPERPLASIA II
  • beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2
  • delta 5 delta 4 isomerase type II
  • Delta-5-3-ketosteroid isomerase
  • HSD3B
  • HSD3B2
  • HSDB
  • HSDB3B
  • hydroxy delta 5 steroid dehydrogenase, 3 beta and steroid delta isomerase 2
  • Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
  • Progesterone reductase
  • SDR11E2
  • short chain dehydrogenase/reductase family 11E, member 2
  • Steroid Delta-isomerase

  see all
• 功能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.
• 组织特异性Expressed in adrenal gland, testis and ovary.
• 通路Lipid metabolism; steroid biosynthesis.
• 疾病相关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.
  Note=Mild HSD3B2 deficiency in hyperandrogenic females is associated with characteristic traits of polycystic ovary syndrome, such as insulin resistance and luteinizing hormon hypersecretion.
• 序列相似性Belongs to the 3-beta-HSD family.
• 细胞定位Endoplasmic reticulum membrane. Mitochondrion membrane.

• Target information above from: UniProt accession P26439 The UniProt Consortium
  The Universal Protein Resource (UniProt) in 2010
  Nucleic Acids Res. 38:D142-D148 (2010) .

  Information by UniProt