title: Overview: ABC transporters and human disease.
abstract: ABC transporters are found in all known organisms, and approximately 1,100 different transporters belonging to this family have been described in the literature. The family is defined by homology within the ATP-binding cassette (ABC) region, which extends outside of the more typical Walker motifs found in all ATP-binding proteins. Most family members also contain transmembrane domains involved in recognition of substrates, which are transported across, into, and out of cell membranes, but some members utilize ABCs as engines to regulate ion channels. There are approximately 50 known ABC transporters in the human, and there are currently 13 genetic diseases associated with defects in 14 of these transporters. The most common genetic disease conditions include cystic fibrosis, Stargardt disease, age-related macular degeneration, adrenoleukodystrophy, Tangier disease, Dubin-Johnson syndrome and progressive familial intrahepatic cholestasis. At least 8 members of this family are involved in the transport of a variety of amphipathic compounds, including anticancer drugs, and some appear to contribute to the resistance of cancer cells to chemotherapy.
authors.affiliation: Laboratory of Cell Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892-4255, USA. mgottesman@nih.gov
authors.forename: M M
authors.initials: MM
authors.lastname: Gottesman
authors.forename: S V
authors.initials: SV
authors.lastname: Ambudkar
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics / Q000502:physiology*; D000595:Amino Acid Sequence; D018432:Drug Resistance, Multiple; D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007154:Immune System Diseases / Q000235:genetics / Q000503:physiopathology; D008969:Molecular Sequence Data; D009369:Neoplasms / Q000235:genetics / Q000503:physiopathology
chemical_list: D018528:ATP-Binding Cassette Transporters