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CYP17 / CYP17A1 is 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.
Gene Name: | cytochrome P450, family 17, subfamily A, polypeptide 1 |
Family/Subfamily: | Cytochrome P450 , not assigned-Cytochrome P450 |
Synonyms: | CYP17A1, CYP17, CYPXVII, CPT7, Cytochrome P450-C17, Cytochrome P450c17, p450C17, Steroid 17-alpha-monooxygenase, Cytochrome P450 17A1, Cytochrome p450 XVIIA1, S17AH |
Target Sequences: | NM_000102 NP_000093.1 P05093 |
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