Gene Symbol | CYP17A1 |
Entrez Gene ID | 1586 |
Full Name | cytochrome P450 family 17 subfamily A member 1 |
Synonyms | CPT7,CYP17,P450C17,S17AH |
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 endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | 17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3); 17,20-lyase deficiency, isolated, 202110 (3) |