Analysis of CYP17A1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2091-LGZ)

Introduction

Official Full Name: cytochrome P450 family 17 subfamily A member 1<br />Also known as: CPT7; CYP17; S17AH; P450C17<br />This gene encodes a member of the cytochrome P450 superfamily of enzymes. Cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids, and other lipids. This protein localizes to the endoplasmic reticulum. It has 17α-hydroxylase and 1720-lyase activities and is a key enzyme in the steroidogenesis pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens and estrogens. Mutations in this gene have been associated with isolated steroid-17α-hydroxylase deficiency, 17-α-hydroxylase/17, 20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia.