Aldosterone synthase

Cytochrome P450, family 11, subfamily B, polypeptide 2
Identifiers
Symbols	CYP11B2; ALDOS; CPN2; CYP11B; CYP11BL; P-450C18; P450C18; P450aldo
External IDs	OMIM: 124080 MGI: 88583 HomoloGene: 106948 GeneCards: CYP11B2 Gene
EC number	1.14.15.4
Gene Ontology Molecular function • steroid 11-beta-monooxygenase activity • steroid 11-beta-monooxygenase activity • steroid hydroxylase activity • electron carrier activity • oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen • heme binding • metal ion binding • corticosterone 18-monooxygenase activity Cellular component • mitochondrion • mitochondrial inner membrane • mitochondrial inner membrane • membrane Biological process • regulation of blood volume by renal aldosterone • renal water homeostasis • C21-steroid hormone biosynthetic process • mineralocorticoid biosynthetic process • xenobiotic metabolic process • steroid metabolic process • aldosterone biosynthetic process • aldosterone biosynthetic process • cellular response to hormone stimulus • cortisol biosynthetic process • cortisol biosynthetic process • cellular response to potassium ion • hormone biosynthetic process • potassium ion homeostasis • sodium ion homeostasis Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1585	13072
Ensembl	ENSG00000179142	ENSMUSG00000022589
UniProt	P19099	P15539
RefSeq (mRNA)	NM_000498.3	NM_009991.3
RefSeq (protein)	NP_000489.3	NP_034121.3
Location (UCSC)	Chr 8: 143.99 – 144 Mb	Chr 15: 74.68 – 74.69 Mb
PubMed search	[1]	[2]

Aldosterone synthase (or 18-hydroxylase) is a steroid hydroxylase cytochrome P450 oxidase enzyme involved in the generation of aldosterone.

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids, and other lipids. This protein is primarily expressed in the zona glomerulosa of the adrenal cortex. Within the cell, it localizes to the inner membrane of the mitochondria. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency.

It converts 11-deoxycorticosterone to corticosterone, to 18-hydroxycorticosterone, and finally to aldosterone:

• 

  11-Deoxycorticosterone

• 

  Corticosterone

• 

  18-hydroxycorticosterone

• 

  Aldosterone

See also

• Hypoaldosteronism
• Glucocorticoid remediable aldosteronism

Additional images

Steroidogenesis, showing aldosterone synthase at right.

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  Corticosteroid biosynthetic pathway in rat

Further reading

• Helmberg A (1993). "Twin genes and endocrine disease: CYP21 and CYP11B genes.". Acta Endocrinol. 129 (2): 97–108. PMID 8372604. 
• Slight SH, Joseph J, Ganjam VK, Weber KT (1999). "Extra-adrenal mineralocorticoids and cardiovascular tissue.". J. Mol. Cell. Cardiol. 31 (6): 1175–84. doi:10.1006/jmcc.1999.0963. PMID 10371693. 
• 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. 
• Padmanabhan N, Padmanabhan S, Connell JM (2002). "Genetic basis of cardiovascular disease--the renin-angiotensin-aldosterone system as a paradigm.". Journal of the renin-angiotensin-aldosterone system : JRAAS 1 (4): 316–24. doi:10.3317/jraas.2000.060. PMID 11967817. 
• Lifton RP, Dluhy RG, Powers M, et al. (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. 
• Mitsuuchi Y, Kawamoto T, Naiki Y, et al. (1992). "Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients.". Biochem. Biophys. Res. Commun. 182 (2): 974–9. doi:10.1016/0006-291X(92)91827-D. PMID 1346492. 
• 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. PMC 49911. PMID 1518866. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=49911. 
• Pascoe L, Curnow KM, Slutsker L, et al. (1992). "Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency". Proc. Natl. Acad. Sci. U.S.A. 89 (11): 4996–5000. doi:10.1073/pnas.89.11.4996. PMC 49215. PMID 1594605. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=49215. 
• 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. PMC 48470. PMID 1741400. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=48470. 
• Curnow KM, Tusie-Luna MT, Pascoe L, et al. (1992). "The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex". Mol. Endocrinol. 5 (10): 1513–22. doi:10.1210/mend-5-10-1513. PMID 1775135. 
• Kawainoto T, Mitsuuchi Y, Ohnishi T, et al. (1991). "Cloning and expression of a cDNA for human cytochrome P-450aldo as related to primary aldosteronism". Biochem. Biophys. Res. Commun. 173 (1): 309–16. doi:10.1016/S0006-291X(05)81058-7. PMID 2256920. 
• 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. 
• Martsev SP, Chashchin VL, Akhrem AA (1985). "[Reconstruction and study of a multi-enzyme system by 11 beta-hydroxylase steroids]". Biokhimiia 50 (2): 243–57. PMID 3872685. 
• Shizuta Y, Kawamoto T, Mitsuuchi Y, et al. (1995). "Inborn errors of aldosterone biosynthesis in humans". Steroids 60 (1): 15–21. doi:10.1016/0039-128X(94)00023-6. PMID 7792802. 
• Mitsuuchi Y, Kawamoto T, Miyahara K, et al. (1993). "Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients". Biochem. Biophys. Res. Commun. 190 (3): 864–9. doi:10.1006/bbrc.1993.1128. PMID 8439335. 
• Fardella CE, Rodriguez H, Montero J, et al. (1997). "Genetic variation in P450c11AS in Chilean patients with low renin hypertension". J. Clin. Endocrinol. Metab. 81 (12): 4347–51. doi:10.1210/jc.81.12.4347. PMID 8954040. 
• Nomoto S, Massa G, Mitani F, et al. (1997). "CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18)". Biochem. Biophys. Res. Commun. 234 (2): 382–5. doi:10.1006/bbrc.1997.6651. PMID 9177280. 
• Peter M, Fawaz L, Drop SL, et al. (1997). "Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997". J. Clin. Endocrinol. Metab. 82 (11): 3525–8. doi:10.1210/jc.82.11.3525. PMID 9360501. 
• Taymans SE, Pack S, Pak E, et al. (1998). "Human CYP11B2 (aldosterone synthase) maps to chromosome 8q24.3". J. Clin. Endocrinol. Metab. 83 (3): 1033–6. doi:10.1210/jc.83.3.1033. PMID 9506770. 

External links

• MeSH Aldosterone+synthase