- Aldosterone synthase
Aldosterone synthase (or 18-hydroxylase) is a
steroid hydroxylase cytochrome P450 oxidase enzyme involved in the generation ofaldosterone .PBB_Summary
section_title =
summary_text = 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. 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. [cite web | title = Entrez Gene: CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1585| accessdate = ]It converts
11-deoxycorticosterone tocorticosterone , to18-hydroxycorticosterone , and finally toaldosterone :It is found in the
zona glomerulosa .
=AdditionalReferences
Further reading
PBB_Further_reading
citations =
*cite journal | author=Helmberg A |title=Twin genes and endocrine disease: CYP21 and CYP11B genes. |journal=Acta Endocrinol. |volume=129 |issue= 2 |pages= 97–108 |year= 1993 |pmid= 8372604 |doi=
*cite journal | author=Slight SH, Joseph J, Ganjam VK, Weber KT |title=Extra-adrenal mineralocorticoids and cardiovascular tissue. |journal=J. Mol. Cell. Cardiol. |volume=31 |issue= 6 |pages= 1175–84 |year= 1999 |pmid= 10371693 |doi= 10.1006/jmcc.1999.0963
*cite journal | author=Stowasser M, Gunasekera TG, Gordon RD |title=Familial varieties of primary aldosteronism. |journal=Clin. Exp. Pharmacol. Physiol. |volume=28 |issue= 12 |pages= 1087–90 |year= 2002 |pmid= 11903322 |doi=
*cite journal | author=Padmanabhan N, Padmanabhan S, Connell JM |title=Genetic basis of cardiovascular disease--the renin-angiotensin-aldosterone system as a paradigm. |journal=Journal of the renin-angiotensin-aldosterone system : JRAAS |volume=1 |issue= 4 |pages= 316–24 |year= 2002 |pmid= 11967817 |doi= 10.3317/jraas.2000.060
*cite journal | author=Lifton RP, Dluhy RG, Powers M, "et al." |title=Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase. |journal=Nat. Genet. |volume=2 |issue= 1 |pages= 66–74 |year= 1993 |pmid= 1303253 |doi= 10.1038/ng0992-66
*cite journal | author=Mitsuuchi Y, Kawamoto T, Naiki Y, "et al." |title=Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients. |journal=Biochem. Biophys. Res. Commun. |volume=182 |issue= 2 |pages= 974–9 |year= 1992 |pmid= 1346492 |doi=
*cite journal | author=Pascoe L, Curnow KM, Slutsker L, "et al." |title=Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=89 |issue= 17 |pages= 8327–31 |year= 1992 |pmid= 1518866 |doi=
*cite journal | author=Pascoe L, Curnow KM, Slutsker L, "et al." |title=Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=89 |issue= 11 |pages= 4996–5000 |year= 1992 |pmid= 1594605 |doi=
*cite journal | author=Kawamoto T, Mitsuuchi Y, Toda K, "et al." |title=Role of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and mineralocorticoids in humans. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=89 |issue= 4 |pages= 1458–62 |year= 1992 |pmid= 1741400 |doi=
*cite journal | author=Curnow KM, Tusie-Luna MT, Pascoe L, "et al." |title=The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex. |journal=Mol. Endocrinol. |volume=5 |issue= 10 |pages= 1513–22 |year= 1992 |pmid= 1775135 |doi=
*cite journal | author=Kawainoto T, Mitsuuchi Y, Ohnishi T, "et al." |title=Cloning and expression of a cDNA for human cytochrome P-450aldo as related to primary aldosteronism. |journal=Biochem. Biophys. Res. Commun. |volume=173 |issue= 1 |pages= 309–16 |year= 1991 |pmid= 2256920 |doi=
*cite journal | author=Mornet E, Dupont J, Vitek A, White PC |title=Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta). |journal=J. Biol. Chem. |volume=264 |issue= 35 |pages= 20961–7 |year= 1990 |pmid= 2592361 |doi=
*cite journal | author=Martsev SP, Chashchin VL, Akhrem AA |title= [Reconstruction and study of a multi-enzyme system by 11 beta-hydroxylase steroids] |journal=Biokhimiia |volume=50 |issue= 2 |pages= 243–57 |year= 1985 |pmid= 3872685 |doi=
*cite journal | author=Shizuta Y, Kawamoto T, Mitsuuchi Y, "et al." |title=Inborn errors of aldosterone biosynthesis in humans. |journal=Steroids |volume=60 |issue= 1 |pages= 15–21 |year= 1995 |pmid= 7792802 |doi=
*cite journal | author=Mitsuuchi Y, Kawamoto T, Miyahara K, "et al." |title=Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients. |journal=Biochem. Biophys. Res. Commun. |volume=190 |issue= 3 |pages= 864–9 |year= 1993 |pmid= 8439335 |doi=
*cite journal | author=Fardella CE, Rodriguez H, Montero J, "et al." |title=Genetic variation in P450c11AS in Chilean patients with low renin hypertension. |journal=J. Clin. Endocrinol. Metab. |volume=81 |issue= 12 |pages= 4347–51 |year= 1997 |pmid= 8954040 |doi=
*cite journal | author=Nomoto S, Massa G, Mitani F, "et al." |title=CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18). |journal=Biochem. Biophys. Res. Commun. |volume=234 |issue= 2 |pages= 382–5 |year= 1997 |pmid= 9177280 |doi=
*cite journal | author=Peter M, Fawaz L, Drop SL, "et al." |title=Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997. |journal=J. Clin. Endocrinol. Metab. |volume=82 |issue= 11 |pages= 3525–8 |year= 1997 |pmid= 9360501 |doi=
*cite journal | author=Taymans SE, Pack S, Pak E, "et al." |title=Human CYP11B2 (aldosterone synthase) maps to chromosome 8q24.3. |journal=J. Clin. Endocrinol. Metab. |volume=83 |issue= 3 |pages= 1033–6 |year= 1998 |pmid= 9506770 |doi=External links
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