Gene Symbol | CYP11A1 |
Entrez Gene ID | 1583 |
Full Name | cytochrome P450 family 11 subfamily A member 1 |
Synonyms | CYP11A,CYPXIA1,P450SCC |
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 catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3) |