HSD3B2

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Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Identifiers
Symbols HSD3B2 ; HSD3B; HSDB; SDR11E2
External IDs OMIM613890 MGI109598 HomoloGene69149 ChEMBL: 3670 GeneCards: HSD3B2 Gene
EC number 1.1.1.145, 5.3.3.1
RNA expression pattern
PBB GE HSD3B2 206294 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 3284 15492
Ensembl ENSG00000203859 ENSMUSG00000027871
UniProt P26439 P24815
RefSeq (mRNA) NM_000198 NM_008293
RefSeq (protein) NP_000189 NP_032319
Location (UCSC) Chr 1:
119.96 – 119.97 Mb
Chr 3:
98.85 – 98.86 Mb
PubMed search [1] [2]

HSD3B2 is a human gene that encodes for 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase type II or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2.[1] It is expressed principally in steroidogenic tissues and is essential for steroid hormone production.[2] A notable exception is the placenta, where HSD3B1 is critical for progesterone production by this tissue.

Mutations in the HSD3B2 gene result in the condition congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.

References[edit]

  1. ^ "Entrez Gene: HSD3B2 Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2". 
  2. ^ Pelletier G, Dupont E, Simard J, Luu-The V, Bélanger A, Labrie F (October 1992). "Ontogeny and subcellular localization of 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) in the human and rat adrenal, ovary and testis". J. Steroid Biochem. Mol. Biol. 43 (5): 451–67. doi:10.1016/0960-0760(92)90084-V. PMID 1390295. 

Further reading[edit]

  • 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. doi:10.1159/000179067. 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. doi:10.1089/dna.1991.10.701. 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. doi:10.1210/mend-5-8-1147. 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. doi:10.1007/BF00204189. 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. doi:10.1210/jc.80.7.2127. 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. doi:10.1093/hmg/4.4.745. 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. doi:10.1093/hmg/4.5.969. 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. doi:10.1093/hmg/3.9.1639. 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. doi:10.1021/bi00009a020. 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. doi:10.1210/jc.79.4.1012. 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. doi:10.1677/jme.0.0120225. 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. doi:10.1016/0378-1119(94)90802-8. 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. doi:10.1210/jc.78.3.561. 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. doi:10.1677/jme.0.0120119. 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. doi:10.1203/00006450-199311000-00026. 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. doi:10.1210/me.7.5.716. 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. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.