title: ABCG transporters and disease.
abstract: ATP-binding cassette (ABC) transporters form a large family of transmembrane proteins that facilitate the transport of specific substrates across membranes in an ATP-dependent manner. Transported substrates include lipids, lipopolysaccharides, amino acids, peptides, proteins, inorganic ions, sugars and xenobiotics. Despite this broad array of substrates, the physiological substrate of many ABC transporters has remained elusive. ABC transporters are divided into seven subfamilies, A-G, based on sequence similarity and domain organization. Here we review the role of members of the ABCG subfamily in human disease and how the identification of disease genes helped to determine physiological substrates for specific ABC transporters. We focus on the recent discovery of mutations in ABCG2 causing hyperuricemia and gout, which has led to the identification of urate as a physiological substrate for ABCG2.
authors.affiliation: Department of Physiology, Johns Hopkins University, School of Medicine, Baltimore, MD, USA.
authors.forename: Owen M
authors.initials: OM
authors.lastname: Woodward
authors.forename: Anna
authors.initials: A
authors.lastname: Köttgen
authors.forename: Michael
authors.initials: M
authors.lastname: Köttgen
mesh_terms: D000070997:ATP Binding Cassette Transporter, Subfamily G, Member 2; D018528:ATP-Binding Cassette Transporters / Q000737:chemistry / Q000235:genetics / Q000502:physiology*; D000818:Animals; D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000378:metabolism*; D006073:Gout / Q000235:genetics / Q000378:metabolism; D006801:Humans; D009154:Mutation; D009363:Neoplasm Proteins / Q000737:chemistry / Q000235:genetics / Q000502:physiology; D020033:Protein Isoforms / Q000737:chemistry / Q000235:genetics / Q000502:physiology
chemical_list: C116614:ABCG2 protein, human; D000070997:ATP Binding Cassette Transporter, Subfamily G, Member 2; D018528:ATP-Binding Cassette Transporters; D009363:Neoplasm Proteins; D020033:Protein Isoforms