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Hydroxysteroid (11-beta) dehydrogenase 2
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| Identifiers | ||||||||||||||
| Symbols | HSD11B2; AME; AME1; HSD11K; HSD2 | |||||||||||||
| External IDs | OMIM: 218030 MGI: 104720 HomoloGene: 20088 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 3291 | 15484 | ||||||||||||
| Ensembl | ENSG00000176387 | ENSMUSG00000031891 | ||||||||||||
| Uniprot | P80365 | Q3U2R0 | ||||||||||||
| Refseq | NM_000196 (mRNA) NP_000187 (protein) |
NM_008289 (mRNA) NP_032315 (protein) |
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| Location | Chr 16: 66.02 - 66.03 Mb | Chr 8: 108.41 - 108.41 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
Hydroxysteroid (11-beta) dehydrogenase 2, also known as HSD11B2, is a human gene.[1] It encodes an NAD+-dependent enzyme expressed in aldosterone-selective tissues.
In these tissues, HSD11B2 oxidizes cortisol to cortisone and prevents illicit activation of the mineralocorticoid receptor.
Inhibition of this enzyme results in a condition known as pseudohyperaldosteronism
References
Further reading
- White PC, Mune T, Agarwal AK (1997). "11 beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess.". Endocr. Rev. 18 (1): 135–56. PMID 9034789.
- Wilson RC, Dave-Sharma S, Wei JQ, et al. (1998). "A genetic defect resulting in mild low-renin hypertension.". Proc. Natl. Acad. Sci. U.S.A. 95 (17): 10200–5. PMID 9707624.
- Quinkler M, Stewart PM (2003). "Hypertension and the cortisol-cortisone shuttle.". J. Clin. Endocrinol. Metab. 88 (6): 2384–92. PMID 12788832.
- Tomlinson JW, Walker EA, Bujalska IJ, et al. (2005). "11beta-hydroxysteroid dehydrogenase type 1: a tissue-specific regulator of glucocorticoid response.". Endocr. Rev. 25 (5): 831–66. doi:. PMID 15466942.
- Persu A (2005). "11beta-Hydroxysteroid deshydrogenase: a multi-faceted enzyme.". J. Hypertens. 23 (1): 29–31. PMID 15643119.
- Funder JW, Pearce PT, Smith R, Smith AI (1988). "Mineralocorticoid action: target tissue specificity is enzyme, not receptor, mediated.". Science 242 (4878): 583–5. PMID 2845584.
- Stewart PM, Wallace AM, Valentino R, et al. (1987). "Mineralocorticoid activity of liquorice: 11-beta-hydroxysteroid dehydrogenase deficiency comes of age.". Lancet 2 (8563): 821–4. PMID 2889032.
- Wilson RC, Harbison MD, Krozowski ZS, et al. (1995). "Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess.". J. Clin. Endocrinol. Metab. 80 (11): 3145–50. PMID 7593417.
- Wilson RC, Krozowski ZS, Li K, et al. (1995). "A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.". J. Clin. Endocrinol. Metab. 80 (7): 2263–6. PMID 7608290.
- Krozowski Z, Baker E, Obeyesekere V, Callen DF (1995). "Localization of the gene for human 11 beta-hydroxysteroid dehydrogenase type 2 (HSD11B2) to chromosome band 16q22.". Cytogenet. Cell Genet. 71 (2): 124–5. PMID 7656579.
- Mune T, Rogerson FM, Nikkilä H, et al. (1995). "Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase.". Nat. Genet. 10 (4): 394–9. doi:. PMID 7670488.
- Albiston AL, Obeyesekere VR, Smith RE, Krozowski ZS (1995). "Cloning and tissue distribution of the human 11 beta-hydroxysteroid dehydrogenase type 2 enzyme.". Mol. Cell. Endocrinol. 105 (2): R11–7. PMID 7859916.
- Agarwal AK, Rogerson FM, Mune T, White PC (1996). "Gene structure and chromosomal localization of the human HSD11K gene encoding the kidney (type 2) isozyme of 11 beta-hydroxysteroid dehydrogenase.". Genomics 29 (1): 195–9. doi:. PMID 8530071.
- Krozowski Z, Albiston AL, Obeyesekere VR, et al. (1996). "The human 11 beta-hydroxysteroid dehydrogenase type II enzyme: comparisons with other species and localization to the distal nephron.". J. Steroid Biochem. Mol. Biol. 55 (5-6): 457–64. PMID 8547170.
- Brown RW, Chapman KE, Kotelevtsev Y, et al. (1996). "Cloning and production of antisera to human placental 11 beta-hydroxysteroid dehydrogenase type 2.". Biochem. J. 313 ( Pt 3): 1007–17. PMID 8611140.
- Brown RW, Chapman KE, Murad P, et al. (1996). "Purification of 11 beta-hydroxysteroid dehydrogenase type 2 from human placenta utilizing a novel affinity labelling technique.". Biochem. J. 313 ( Pt 3): 997–1005. PMID 8611186.
- Kitanaka S, Katsumata N, Tanae A, et al. (1998). "A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess.". J. Clin. Endocrinol. Metab. 82 (12): 4054–8. PMID 9398712.
- Dave-Sharma S, Wilson RC, Harbison MD, et al. (1998). "Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess.". J. Clin. Endocrinol. Metab. 83 (7): 2244–54. PMID 9661590.
- Li A, Tedde R, Krozowski ZS, et al. (1998). "Molecular basis for hypertension in the "type II variant" of apparent mineralocorticoid excess.". Am. J. Hum. Genet. 63 (2): 370–9. PMID 9683587.
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