Analysis of CYP7B1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1868-LGZ)

Introduction

Official Full Name: cytochrome P450 family 7 subfamily B member 1<br />Also known as: CP7B; CBAS3; SPG5A<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 endoplasmic reticulum membrane protein catalyzes the first reaction of the cholesterol catabolic pathway in extrahepatic tissues, converting cholesterol to bile acids. This enzyme may play a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism, and sex hormone synthesis. Mutations in this gene are associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder.