cytochrome P450 family 11 subfamily B member 2
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A CYP11B2 gene provides instructions for making an enzyme called aldosterone synthase (previously known as corticosterone methyloxidase). This enzyme is found in the adrenal glands, which are located on top of the kidneys. Aldosterone synthase 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
A CYP11B2 gene provides instructions for making an enzyme called aldosterone synthase (previously known as corticosterone methyloxidase). This enzyme is found in the adrenal glands, which are located on top of the kidneys. Aldosterone synthase is a member of the cytochrome P450 family of enzymes. These enzymes are involved in the formation and breakdown of various molecules within cells.
Aldosterone synthase helps produce a hormone called aldosterone. Aldosterone helps control blood pressure by maintaining proper salt and fluid levels in the body. The aldosterone synthase enzyme is involved in a series of three chemical reactions that produce aldosterone from other (precursor) molecules: the conversion of 11-deoxycorticosterone to corticosterone, the conversion of corticosterone to 18-hydroxycorticosterone, and the conversion of 18-hydroxycorticosterone to aldosterone.
Conditions referring to this gene or chromosome
Other names
ALDOS
aldosterone synthase
aldosterone-synthesizing enzyme
C11B2_HUMAN
CPN2
CYP11B
CYP11BL
CYPXIB2
cytochrome P-450Aldo
cytochrome P-450C18
cytochrome P450 11B2, mitochondrial
cytochrome P450 11B2, mitochondrial precursor
cytochrome P450, family 11, subfamily B, polypeptide 2
cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2
mitochondrial cytochrome P450, family 11, subfamily B, polypeptide 2
P-450C18
P450aldo
P450C18
steroid 11-beta-monooxygenase
steroid 11-beta/18-hydroxylase
steroid 18-hydroxylase, aldosterone synthase, P450C18, P450aldo
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Leitura adicional e referências
- cytochrome P450 family 11 subfamily B member 2; MedlinePlus, National Library of Medicine.
- Amir O, Amir RE, Paz H, Mor R, Sagiv M, Lewis BS. Aldosterone synthase gene polymorphism as a determinant of atrial fibrillation in patients with heart failure. Am J Cardiol. 2008 Aug 1;102(3):326-9. doi: 10.1016/j.amjcard.2008.03.063. Epub 2008 May 29.
- Connell JM, Fraser R, MacKenzie SM, Friel EC, Ingram MC, Holloway CD, Davies E. The impact of polymorphisms in the gene encoding aldosterone synthase (CYP11B2) on steroid synthesis and blood pressure regulation. Mol Cell Endocrinol. 2004 Mar 31;217(1-2):243-7. doi: 10.1016/j.mce.2003.10.025.
- 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.
- Nguyen HH, Hannemann F, Hartmann MF, Malunowicz EM, Wudy SA, Bernhardt R. Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses. Mol Genet Metab. 2010 Aug;100(4):357-64. doi: 10.1016/j.ymgme.2010.04.016. Epub 2010 May 21.
- 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.
- White PC. Aldosterone synthase deficiency and related disorders. Mol Cell Endocrinol. 2004 Mar 31;217(1-2):81-7. doi: 10.1016/j.mce.2003.10.013.
- Williams SS. Advances in genetic hypertension. Curr Opin Pediatr. 2007 Apr;19(2):192-8. doi: 10.1097/MOP.0b013e32801e217c.
- Yu Y. The CYP11B2 -344C/T variant is associated with ischemic stroke risk: An updated meta-analysis. J Renin Angiotensin Aldosterone Syst. 2015 Jun;16(2):382-8. doi: 10.1177/1470320313492362. Epub 2013 Jun 7.
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