HSD3B2

From Wikipedia, the free encyclopedia

Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

Identifiers

HSD3B2; HSDB3; HSDB

External IDs

OMIM: 201810 MGI: 109598 HomoloGene: 73877

Gene ontology
Molecular Function:	• 3-beta-hydroxy-delta5-steroid dehydrogenase activity • steroid delta-isomerase activity • oxidoreductase activity • isomerase activity
Cellular Component:	• mitochondrion • mitochondrial inner membrane • mitochondrial intermembrane space • endoplasmic reticulum • microsome • membrane • integral to membrane • smooth endoplasmic reticulum membrane
Biological Process:	• steroid biosynthetic process • C21-steroid hormone biosynthetic process • androgen biosynthetic process • estrogen biosynthetic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000198 (mRNA)
NP_000189 (protein)

NM_013821 (mRNA)
NP_038849 (protein)

Location

Chr 1: 119.76 - 119.77 Mb

Chr 3: 98.93 - 98.94 Mb

Pubmed search

[1]

[2]

Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2, also known as HSD3B2, is a human gene.^[1]

[edit] References

^ Entrez Gene: HSD3B2 Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2.

[edit] Further reading

Simard J, Durocher F, Mébarki F, et al. (1996). "Molecular biology and genetics of the 3 beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family.". J. Endocrinol. 150 Suppl: S189–207. PMID 8943802.
Zachmann M, Forest MG, De Peretti E (1980). "3 beta-hydroxysteroid dehydrogenase deficiency. Follow-up study in a girl with pubertal bone age.". Horm. Res. 11 (6): 292–302. PMID 295036.
Rhéaume E, Simard J, Morel Y, et al. (1993). "Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene.". Nat. Genet. 1 (4): 239–45. doi:10.1038/ng0792-239. PMID 1363812.
Lachance Y, Luu-The V, Verreault H, et al. (1992). "Structure of the human type II 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase (3 beta-HSD) gene: adrenal and gonadal specificity.". DNA Cell Biol. 10 (10): 701–11. PMID 1741954.
Rhéaume E, Lachance Y, Zhao HF, et al. (1991). "Structure and expression of a new complementary DNA encoding the almost exclusive 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase in human adrenals and gonads.". Mol. Endocrinol. 5 (8): 1147–57. PMID 1944309.
Morrison N, Nickson DA, McBride MW, et al. (1991). "Regional chromosomal assignment of human 3-beta-hydroxy-5-ene steroid dehydrogenase to 1p13.1 by non-isotopic in situ hybridisation.". Hum. Genet. 87 (2): 223–5. PMID 2066113.
Mébarki F, Sanchez R, Rhéaume E, et al. (1995). "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 (7): 2127–34. PMID 7608265.
Katsumata N, Tanae A, Yasunaga T, et al. (1995). "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 (4): 745–6. PMID 7633426.
Tajima T, Fujieda K, Nakae J, et al. (1995). "Molecular analysis of type II 3 beta-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 beta-hydroxysteroid dehydrogenase deficiency.". Hum. Mol. Genet. 4 (5): 969–71. PMID 7633460.
Sanchez R, Mébarki F, Rhéaume E, et al. (1995). "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 (9): 1639–45. PMID 7833923.
Rhéaume E, Sanchez R, Mébarki F, et al. (1995). "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 (9): 2893–900. PMID 7893703.
Rhéaume E, Sanchez R, Simard J, et al. (1994). "Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency.". J. Clin. Endocrinol. Metab. 79 (4): 1012–8. PMID 7962268.
Russell AJ, Wallace AM, Forest MG, et al. (1994). "Mutation in the human gene for 3 beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss.". J. Mol. Endocrinol. 12 (2): 225–37. PMID 8060486.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. PMID 8125298.
Sanchez R, Rhéaume E, Laflamme N, et al. (1994). "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 (3): 561–7. PMID 8126127.
Mendonça BB, Russell AJ, Vasconcelos-Leite M, et al. (1994). "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 (1): 119–22. PMID 8185809.
Chang YT, Kappy MS, Iwamoto K, et al. (1994). "Mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene in a patient with classic salt-wasting 3 beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia.". Pediatr. Res. 34 (5): 698–700. PMID 8284113.
Simard J, Rhéaume E, Sanchez R, et al. (1993). "Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.". Mol. Endocrinol. 7 (5): 716–28. PMID 8316254.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. PMID 9373149.