BEPS20ssa

BEPS20ssa is a protein that belongs to the BEPS (Bile acid export pump) family, which is involved in the transport of bile acids across cell membranes. The BEPS20ssa protein is specifically expressed in the small intestine and plays a crucial role in the absorption of bile acids, which are essential for the digestion and absorption of fats. The BEPS20ssa protein is encoded by the ABCG5 gene, which is located on chromosome 2 in humans. Mutations in the ABCG5 gene have been associated with several diseases, including progressive familial intrahepatic cholestasis (PFIC) type 2 and 3, a rare genetic disorder characterized by the accumulation of bile acids in the liver. The BEPS20ssa protein is a member of the ATP-binding cassette (ABC) transporter superfamily, which includes numerous proteins involved in the transport of a wide range of substrates, including drugs, toxins, and nutrients. The structure and function of the BEPS20ssa protein have been studied using various molecular and cellular techniques, including X-ray crystallography, site-directed mutagenesis, and functional assays. These studies have provided important insights into the molecular mechanisms underlying bile acid transport and the pathogenesis of diseases associated with mutations in the ABCG5 gene.