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.

单词	cyp17a1
释义	CYP17A1 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.
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