cytochrome P450 family 11 subfamily B member 1
Dernière mise à jour 26 juil. 2023
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The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase. This enzyme is found in the adrenal glands, which are located on top of the kidneys. The 11-beta-hydroxylase enzyme is a member of the cytochrome P450 family of enzymes. These enzymes are involved in the formation and breakdown of various molecules within cells.
Normal function
The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase. This enzyme is found in the adrenal glands, which are located on top of the kidneys. The 11-beta-hydroxylase enzyme is a member of the cytochrome P450 family of enzymes. These enzymes are involved in the formation and breakdown of various molecules within cells.
The 11-beta-hydroxylase enzyme helps produce hormones called cortisol and corticosterone. Specifically, the enzyme helps convert a molecule called 11-deoxycortisol to cortisol, and helps convert another molecule called 11-deoxycorticosterone to corticosterone. These processes are triggered by the release of a hormone called adrenocorticotropic hormone (ACTH) by the pituitary gland, located at the base of the brain.
Cortisol helps maintain blood sugar (glucose) levels, protects the body from physical stress, and suppresses inflammation. Corticosterone is converted to the hormone aldosterone by the aldosterone synthase enzyme, which is produced from the nearby CYP11B2 gene. Aldosterone helps control blood pressure by maintaining proper salt and fluid levels in the body.
Conditions referring to this gene or chromosome
Other names
C11B1_HUMAN
CPN1
CYP11B
CYPXIB1
cytochrome P-450c11
cytochrome P450 11B1, mitochondrial
cytochrome P450 11B1, mitochondrial isoform 1 precursor
cytochrome P450 11B1, mitochondrial isoform 2 precursor
cytochrome p450 XIB1
cytochrome P450, family 11, subfamily B, polypeptide 1
cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1
cytochrome P450C11
DKFZp686B05283
FHI
FLJ36771
P450C11
steroid 11-beta-hydroxylase
steroid 11-beta-monooxygenase
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Lectures complémentaires et références
- cytochrome P450 family 11 subfamily B member 1; MedlinePlus, National Library of Medicine.
- Martinez-Aguayo A, Fardella C. Genetics of hypertensive syndrome. Horm Res. 2009;71(5):253-9. doi: 10.1159/000208798. Epub 2009 Apr 1.
- Moraitis AG, Rainey WE, Auchus RJ. Gene mutations that promote adrenal aldosterone production, sodium retention, and hypertension. Appl Clin Genet. 2013 Dec 24;7:1-13. doi: 10.2147/TACG.S35571.
- Nimkarn S, New MI. Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia. Trends Endocrinol Metab. 2008 Apr;19(3):96-9. doi: 10.1016/j.tem.2008.01.002. Epub 2008 Feb 21.
- Parajes S, Loidi L, Reisch N, Dhir V, Rose IT, Hampel R, Quinkler M, Conway GS, Castro-Feijoo L, Araujo-Vilar D, Pombo M, Dominguez F, Williams EL, Cole TR, Kirk JM, Kaminsky E, Rumsby G, Arlt W, Krone N. Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11beta-hydroxylase deficiency. J Clin Endocrinol Metab. 2010 Feb;95(2):779-88. doi: 10.1210/jc.2009-0651. Epub 2010 Jan 20.
- Peter M. Congenital adrenal hyperplasia: 11beta-hydroxylase deficiency. Semin Reprod Med. 2002 Aug;20(3):249-54. doi: 10.1055/s-2002-35389.
- Quack I, Vonend O, Rump LC. Familial hyperaldosteronism I-III. Horm Metab Res. 2010 Jun;42(6):424-8. doi: 10.1055/s-0029-1246187. Epub 2010 Feb 3.
- Stowasser M, Gordon RD. Familial hyperaldosteronism. J Steroid Biochem Mol Biol. 2001 Sep;78(3):215-29. doi: 10.1016/s0960-0760(01)00097-8.
- Stowasser M, Gordon RD. Monogenic mineralocorticoid hypertension. Best Pract Res Clin Endocrinol Metab. 2006 Sep;20(3):401-20. doi: 10.1016/j.beem.2006.07.008.
- Stowasser M, Gunasekera TG, Gordon RD. Familial varieties of primary aldosteronism. Clin Exp Pharmacol Physiol. 2001 Dec;28(12):1087-90. doi: 10.1046/j.1440-1681.2001.03574.x.
- Williams SS. Advances in genetic hypertension. Curr Opin Pediatr. 2007 Apr;19(2):192-8. doi: 10.1097/MOP.0b013e32801e217c.
Historique de l'article
Article également disponible en Anglais, Allemand, Espagnol, Français, Italien, Portugais, Hindi, Hébreu, Arabe, and Suédois.
26 juil. 2023 | Dernière version
1 Apr 2014 | Publié à l'origine
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