Gene Symbol | CYP11B2 |
Entrez Gene ID | 1585 |
Full Name | cytochrome P450 family 11 subfamily B member 2 |
Synonyms | ALDOS,CPN2,CYP11B,CYP11BL,CYPXIB2,P-450C18,P450C18,P450aldo |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3); Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3); {Low renin hypertension, susceptibility to} (3); Aldosterone to renin ratio raised (3) |