ABCG5 Antibody – Rabbit Polyclonal

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]

ABCG5: 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. Defects in ABCG5 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.

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

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; cholesterol efflux; response to ionizing radiation; excretion; transmembrane transport; response to nutrient; sterol transport

Disease: Sitosterolemia