Gene CYP17A1
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Also known as
CPT7, P450C17, S17AH, cytochrome P450 family 17 subfamily A member 1Overview
CYP17A1 (Cytochrome P450 Family 17 Subfamily A Member 1) encodes an enzyme with both 17-alpha-hydroxylase and 17,20-lyase activities, making it essential for the biosynthesis of cortisol, androgens, and estrogens. This enzyme catalyzes key steps in steroid hormone production in the adrenal glands and gonads.Mutations in CYP17A1 cause 17-alpha-hydroxylase/17,20-lyase deficiency, a rare form of congenital adrenal hyperplasia. Affected individuals have impaired sex steroid production leading to ambiguous or female genitalia in genetic males, along with hypertension from excess mineralocorticoid production. Common variants in CYP17A1 have been associated with polycystic ovary syndrome and hormone-related cancer risks.
Understanding your CYP17A1 genetic status provides insights into steroid hormone metabolism and may be relevant for hormone-related conditions. CYP17A1 inhibitors are used therapeutically for prostate cancer treatment, highlighting the clinical importance of this enzyme in hormone-dependent diseases.