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Steroid 11-beta-hydroxylase: Wikis

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Cytochrome P450, family 11, subfamily B, polypeptide 1
Identifiers
Symbols CYP11B1; CPN1; CYP11B; DKFZp686B05283; FHI; FLJ36771; P450C11
External IDs OMIM610613 MGI88584 HomoloGene88331 GeneCards: CYP11B1 Gene
EC number 1.14.15.4
RNA expression pattern
PBB GE CYP11B1 214610 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1584 13072
Ensembl ENSG00000160882 ENSMUSG00000022589
UniProt P15538 Q14AB5
RefSeq (mRNA) NM_000497 NM_009991
RefSeq (protein) NP_000488 NP_034121
Location (UCSC) Chr 8:
143.95 - 143.96 Mb
Chr 15:
74.68 - 74.68 Mb
PubMed search [1] [2]

Steroid 11β-hydroxylase is a steroid hydroxylase found in the zona fasciculata. Named officially the cytochrome P450 11B1, mitochondrial, it is a protein that in humans is encoded by the CYP11B1 gene.[1][2]

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of 11-deoxycortisol to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene.[2]

Contents

Function

It generates cortisol from 11-deoxycortisol and corticosterone from 11-deoxycorticosterone. Note the extra "–OH" added at the 11 position (near the center, on ring "C"):

Clinical significance

A mutation is associated with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.

Additional images

Steroidogenesis, showing steroid 11-beta-hydroxylase vertically at right.

References

  1. ^ Lifton RP, Dluhy RG, Powers M, Rich GM, Gutkin M, Fallo F, Gill JR Jr, Feld L, Ganguly A, Laidlaw JC, et al. (Jun 1993). "Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase". Nat Genet 2 (1): 66-74. doi:10.1038/ng0992-66. PMID 1303253.  
  2. ^ a b "Entrez Gene: CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1584.  

Further reading

  • Helmberg A (1993). "Twin genes and endocrine disease: CYP21 and CYP11B genes.". Acta Endocrinol. 129 (2): 97–108. PMID 8372604.  
  • Stowasser M, Gunasekera TG, Gordon RD (2002). "Familial varieties of primary aldosteronism.". Clin. Exp. Pharmacol. Physiol. 28 (12): 1087–90. doi:10.1046/j.1440-1681.2001.03574.x. PMID 11903322.  
  • Helmberg A, Ausserer B, Kofler R (1992). "Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency.". J. Clin. Endocrinol. Metab. 75 (5): 1278–81. doi:10.1210/jc.75.5.1278. PMID 1430088.  
  • Pascoe L, Curnow KM, Slutsker L, et al. (1992). "Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2.". Proc. Natl. Acad. Sci. U.S.A. 89 (17): 8327–31. doi:10.1073/pnas.89.17.8327. PMID 1518866.  
  • Kawamoto T, Mitsuuchi Y, Toda K, et al. (1992). "Role of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and mineralocorticoids in humans.". Proc. Natl. Acad. Sci. U.S.A. 89 (4): 1458–62. doi:10.1073/pnas.89.4.1458. PMID 1741400.  
  • White PC, Dupont J, New MI, et al. (1991). "A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.". J. Clin. Invest. 87 (5): 1664–7. doi:10.1172/JCI115182. PMID 2022736.  
  • Kawamoto T, Mitsuuchi Y, Toda K, et al. (1990). "Cloning of cDNA and genomic DNA for human cytochrome P-45011 beta.". FEBS Lett. 269 (2): 345–9. doi:10.1016/0014-5793(90)81190-Y. PMID 2401360.  
  • Mornet E, Dupont J, Vitek A, White PC (1990). "Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta).". J. Biol. Chem. 264 (35): 20961–7. PMID 2592361.  
  • Chua SC, Szabo P, Vitek A, et al. (1987). "Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11).". Proc. Natl. Acad. Sci. U.S.A. 84 (20): 7193–7. doi:10.1073/pnas.84.20.7193. PMID 3499608.  
  • Naiki Y, Kawamoto T, Mitsuuchi Y, et al. (1994). "A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency.". J. Clin. Endocrinol. Metab. 77 (6): 1677–82. doi:10.1210/jc.77.6.1677. PMID 7903314.  
  • Joehrer K, Geley S, Strasser-Wozak EM, et al. (1998). "CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency.". Hum. Mol. Genet. 6 (11): 1829–34. doi:10.1093/hmg/6.11.1829. PMID 9302260.  
  • Cargill M, Altshuler D, Ireland J, et al. (1999). "Characterization of single-nucleotide polymorphisms in coding regions of human genes.". Nat. Genet. 22 (3): 231–8. doi:10.1038/10290. PMID 10391209.  
  • Halushka MK, Fan JB, Bentley K, et al. (1999). "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.". Nat. Genet. 22 (3): 239–47. doi:10.1038/10297. PMID 10391210.  
  • Cao PR, Bernhardt R (1999). "Interaction of CYP11B1 (cytochrome P-45011 beta) with CYP11A1 (cytochrome P-450scc) in COS-1 cells.". Eur. J. Biochem. 262 (3): 720–6. doi:10.1046/j.1432-1327.1999.00414.x. PMID 10411633.  
  • Loidi L, Quinteiro C, Barros F, et al. (2000). "The C494F variant in the CYP11B1 gene is a sequence polymorphism in the Spanish population.". J. Clin. Endocrinol. Metab. 84 (12): 4749. doi:10.1210/jc.84.12.4749. PMID 10599751.  
  • Chabre O, Portrat-Doyen S, Chaffanjon P, et al. (2000). "Bilateral laparoscopic adrenalectomy for congenital adrenal hyperplasia with severe hypertension, resulting from two novel mutations in splice donor sites of CYP11B1.". J. Clin. Endocrinol. Metab. 85 (11): 4060–8. doi:10.1210/jc.85.11.4060. PMID 11095433.  
  • Fisher A, Friel EC, Bernhardt R, et al. (2001). "Effects of 18-hydroxylated steroids on corticosteroid production by human aldosterone synthase and 11beta-hydroxylase.". J. Clin. Endocrinol. Metab. 86 (9): 4326–9. doi:10.1210/jc.86.9.4326. PMID 11549669.  
  • Hampf M, Dao NT, Hoan NT, Bernhardt R (2001). "Unequal crossing-over between aldosterone synthase and 11beta-hydroxylase genes causes congenital adrenal hyperplasia.". J. Clin. Endocrinol. Metab. 86 (9): 4445–52. doi:10.1210/jc.86.9.4445. PMID 11549691.  

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