Analysis of ABCG5 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1723-LGZ)

Introduction

Official Full Name: ATP binding cassette subfamily G member 5<br />Also known as: STSL; STSL2<br />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 protein encoded by this gene acts as a hemi-transporter, limiting intestinal absorption and promoting biliary excretion of sterols. It is expressed in the liver, colon and intestine in a tissue-specific manner. The gene is arranged in tandem on chromosome 2, in a head-to-head arrangement with the family member ABCG8. Mutations in this gene may lead to sterol accumulation and atherosclerosis and have been observed in patients with sitosterolemia.