CYP17A1

(redirected from 17-hydroxylase)
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CYP17A1

A gene on chromosome 10q24.3 that encodes a member of the cytochrome P450 superfamily of enzymes, which catalyse reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. CYP17A1 localises to the endoplasmic reticulum and has 17 alpha-hydroxylase and 17, 20-lyase activities; it is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens and oestrogens.

Molecular pathology
CYP17A1 mutations are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17, 20-lyase deficiency, pseudohermaphroditism and adrenal hyperplasia.
References in periodicals archive ?
3,5) These associated adrenal pathologic conditions include adrenocortical hyperplasia, (3) adrenocortical adenomas, (3,5) adrenocortical carcinomas, (5) and endocrinologic dysfunctions, including Addison disease, (4) Conn syndrome, (5) 21-hydroxylase deficiency, (3) 17-hydroxylase deficiency, (6) and ectopic corticotropin production.
Adrenal myelolipoma in a woman with congenital 17-hydroxylase deficiency.