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3-Beta-Hydroxysteroid Dehydrogenase Type 2 (HSD3b2)

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HSDB3; HSDB; SDR11E2; Short Chain Dehydrogenase/Reductase Family 11E,Member 2; Hydroxy Delta 5 Steroid Dehydrogenase 3 Beta And Steroid Delta Isomerase 2

3-Beta-Hydroxysteroid Dehydrogenase Type 2 (HSD3b2)
CCC L590
HGNC 5218
MGI 109598
PubMed 11912155
UniProt P26439
Wiki HSD3B2
HSD3B2 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. HSD3B subtype-specific quantitative RT-PCR analysis of mouse adrenal gland tissues revealed that expression of mouse Hsd3b6, which is the functional counterpart of HSD3B1, was considerably enriched in zona glomerulosa cells of the adrenal gland, whereas expression of mouse Hsd3b1, which is the functional counterpart of HSD3B2, was predominantly expressed in zona fasciculata cells.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant 3-Beta-Hydroxysteroid Dehydrogenase Type 2 (HSD3b2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to 3-Beta-Hydroxysteroid Dehydrogenase Type 2 (HSD3b2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to 3-Beta-Hydroxysteroid Dehydrogenase Type 2 (HSD3b2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for 3-Beta-Hydroxysteroid Dehydrogenase Type 2 (HSD3b2) CLIA Kit Customized Service Offer
n/a ELISA Kit for 3-Beta-Hydroxysteroid Dehydrogenase Type 2 (HSD3b2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant 3-Beta-Hydroxysteroid Dehydrogenase Type 2 (HSD3b2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to 3-Beta-Hydroxysteroid Dehydrogenase Type 2 (HSD3b2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to 3-Beta-Hydroxysteroid Dehydrogenase Type 2 (HSD3b2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for 3-Beta-Hydroxysteroid Dehydrogenase Type 2 (HSD3b2) CLIA Kit Customized Service Offer
n/a ELISA Kit for 3-Beta-Hydroxysteroid Dehydrogenase Type 2 (HSD3b2) ELISA Kit Customized Service Offer
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  8. "The hormonal phenotype of nonclassic 3 beta-hydroxysteroid dehydrogenase (HSD3B) deficiency in hyperandrogenic females is associated with insulin-resistant polycystic ovary syndrome and is not a variant of inherited HSD3B2 deficiency."J. Clin. Endocrinol. Metab. 89:783-794(2004) [PubMed] [Europe PMC] [Abstract]
  9. "Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency."Mol. Endocrinol. 7:716-728(1993) [PubMed] [Europe PMC] [Abstract]
  10. "Functional characterization of the novel L108W and P186L mutations detected in the type II 3 beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia."Hum. Mol. Genet. 3:1639-1645(1994) [PubMed] [Europe PMC] [Abstract]
  11. "Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency."J. Clin. Endocrinol. Metab. 78:561-567(1994) [PubMed] [Europe PMC] [Abstract]
  12. "Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency."J. Clin. Endocrinol. Metab. 79:1012-1018(1994) [PubMed] [Europe PMC] [Abstract]
  13. "Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females."J. Mol. Endocrinol. 12:119-122(1994) [PubMed] [Europe PMC] [Abstract]
  14. "Mutation in the human gene for 3 beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss."J. Mol. Endocrinol. 12:225-237(1994) [PubMed] [Europe PMC] [Abstract]
  15. "Identification and characterization of the G15D mutation found in a male patient with 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency: alteration of the putative NAD-binding domain of type II 3 beta-HSD."Biochemistry 34:2893-2900(1995) [PubMed] [Europe PMC] [Abstract]
  16. "A novel missense mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency."Hum. Mol. Genet. 4:745-746(1995) [PubMed] [Europe PMC] [Abstract]
  17. "Molecular analysis of type II 3 beta-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 beta-hydroxysteroid dehydrogenase deficiency."Hum. Mol. Genet. 4:969-971(1995) [PubMed] [Europe PMC] [Abstract]
  18. "Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene."J. Clin. Endocrinol. Metab. 80:2127-2134(1995) [PubMed] [Europe PMC] [Abstract]
  19. "Variants of the type II 3beta-hydroxysteroid dehydrogenase gene in children with premature pubic hair and hyperandrogenic adolescents."Mol. Genet. Metab. 64:184-192(1998) [PubMed] [Europe PMC] [Abstract]
  20. "New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene in eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes."J. Clin. Endocrinol. Metab. 84:4410-4425(1999) [PubMed] [Europe PMC] [Abstract]
  21. "Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls."Clin. Endocrinol. (Oxf.) 52:67-75(2000) [PubMed] [Europe PMC] [Abstract]
  22. "A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty."J. Clin. Endocrinol. Metab. 85:1968-1974(2000) [PubMed] [Europe PMC] [Abstract]
  23. "A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3-beta-hydroxysteroid dehydrogenase (3-beta-HSD) gene causing, respectively, nonclassic and classic 3-beta-HSD deficiency congenital adrenal hyperplasia."J. Clin. Endocrinol. Metab. 87:2556-2563(2002) [PubMed] [Europe PMC] [Abstract]
  24. "Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia."J. Clin. Endocrinol. Metab. 93:1418-1425(2008) [PubMed] [Europe PMC] [Abstract]
  25. "In silico structural, functional and pathogenicity evaluation of a novel mutation: an overview of HSD3B2 gene mutations."Gene 503:215-221(2012) [PubMed] [Europe PMC] [Abstract]