ABCG8 Antibody – Rabbit Polyclonal

ABCG8: Transporter that appears to play an indispensable role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile. Genetic variations in ABCG8 can be associated with susceptibility to gallbladder disease type 4 (GBD4). With an overall prevalence of 10-20%, gallstone disease (cholelithiasis) represents one of the most frequent and economically relevant health problems of industrialized countries. Defects in ABCG8 are a cause of sitosterolemia (STSL); also known as phytosterolemia or shellfish sterolemia. It is a rare autosomal recessive disorder characterized by increased intestinal absorption of all sterols including cholesterol, plant and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Sitosterolemia patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease. Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, multi-pass; Membrane protein, integral; Transporter, ABC family; Transporter

Chromosomal Location of Human Ortholog: 2p21

Cellular Component: apical plasma membrane; plasma membrane; ATP-binding cassette (ABC) transporter complex; receptor complex

Molecular Function: protein binding; protein heterodimerization activity; cholesterol transporter activity; ATPase activity; ATP binding

Biological Process: response to drug; negative regulation of cholesterol absorption; cholesterol homeostasis; cholesterol absorption; phospholipid transport; cholesterol efflux; excretion; transmembrane transport; response to nutrient; sterol transport

Disease: Sitosterolemia; Gallbladder Disease 4