Analysis of ABCG8 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1722-LGZ)

Introduction

Official Full Name: ATP binding cassette subfamily G member 8
Also known as: GBD4; STSL; STSL1
The protein encoded by this gene is a member of the ATP-binding cassette transporter superfamily. ABC proteins transport various molecules outside and inside the cell membrane. The ABC genes are grouped into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the albumin subfamily. The function of the protein encoded by this gene is to prevent the entry of non-cholesterol sterols into the intestine, promote the excretion of cholesterol and sterols into bile, and facilitate the transport of sterols into the ileal lumen. It is expressed in a tissue-specific manner in the liver, intestine and gallbladder. The gene is arranged in tandem on chromosome 2, head-to-head with family member ABCG5. Mutations in this gene may lead to sterol accumulation and atherosclerosis and have been observed in patients with sitosterolemia.