CYP17A1

(redirected from 17-hydroxylase)

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 ?

Adrenal myelolipoma in a woman with congenital 17-hydroxylase deficiency.

Seventeen alpha-hydroxylase deficiency associated with absent gonads and myelolipoma: a case report and review of literature

Congenital adrenal hyperplasia secondary to 17-hydroxylase deficiency.

Congenital adrenal hyperplasia due to 17-alpha-hydoxylase/17,20-lyase deficiency presenting with hypertension and pseudohermaphroditism: first case report from Oman

Diagnosis and treatment of 17-hydroxylase deficiency.

Two cousins with 17-alpha hydroxylase deficiency/ 17 alfa hidroksilaz eksikligi Olan Akraba iki Olgu