Gene Symbol | CYP11B1 |
Entrez Gene ID | 1584 |
Full Name | cytochrome P450 family 11 subfamily B member 1 |
Synonyms | CPN1,CYP11B,FHI,P450C11 |
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 and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3); Aldosteronism, glucocorticoid-remediable, 103900 (3) |