The human ATP-binding cassette (ABC) transporter superfamily.

By M. Dean, Y. Hamon, G. Chimini. Journal of Lipid Research, 2001

2,628 citations recorded by the source corpus.

The transport of specific molecules across lipid membranes is an essential function of all living organisms and a large number of specific transporters have evolved to carry out this function. The largest transporter gene family is the ATP-binding cassette (ABC) transporter superfamily. These proteins translocate a wide variety of substrates including sugars, amino acids, metal ions, peptides, and proteins, and a large number of hydrophobic compounds and metabolites across extra- and intracellular membranes. ABC genes are essential for many processes in the cell, and mutations in these genes cause or contribute to several human genetic disorders including cystic fibrosis, neurological disease, retinal degeneration, cholesterol and bile transport defects, anemia, and drug response. Characterization of eukaryotic genomes has allowed the complete identification of all the ABC genes in the yeast Saccharomyces cerevisiae, Drosophila, and C. elegans genomes. To date, there are 48 characterized human ABC genes. The genes can be divided into seven distinct subfamilies, based on organization of domains and amino acid homology. Many ABC genes play a role in the maintenance of the lipid bilayer and in the transport of fatty acids and sterols within the body. Here, we review the current knowledge of the human ABC genes, their role in inherited disease, and understanding of the topology of these genes within the membrane.

Subfields: Biochemistry, Molecular Biology, Oncology

View Paper: https://www.semanticscholar.org/paper/8da15f03a505d87ec83e12566e1641edf2e33459

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Citations in the corpus

Cholesterol metabolism and homeostasis in the brain (2015, positive): “ABCA and ABCG are the major classes in the brain, they are critical for lipid homeostasis (Dean et al., 2001; Schmitz et al., 2000; Puglielli et al., 2003).”
Structure, Function, and Evolution of Bacterial ATP-Binding Cassette Systems (2008, background): “Although ABC systems deserve much attention because they are involved in severe human inherited diseases (107), they were first discovered and characterized in detail in prokaryotes, as early as the 1970s (13, 148, 238, 468).”
Human ATP-binding cassette (ABC) transporter family (2009, background): “These four human half-transporter genes code for at least 49 distinct proteins by means of 102 alternatively spliced transcripts.(10) Mutations in ADBD genes are known to cause ALD and Zellweger syndrome (Table 2).”
Transmembrane transport of endo- and xenobiotics by mammalian ATP-binding cassette multidrug resistance proteins. (2006, background): “Thus MRPs 1–6 and MRPs 7–10 have been designated ABCC1–6 and ABCC10– 13, respectively, while CFTR, SUR1, and SUR2A/2B are designated ABCC7, ABCC8, and ABCC9, respectively (94).”
Induction of phase I, II and III drug metabolism/transport by xenobiotics (2005, background): “The role of TMD is to recognize and mediate the passage of substrates across the cell membranes (Dean et aL, 2001; Kerb et aL, 2001).”
Structure and function of the blood-brain barrier. (2010, background): “ABC transporters in the human are a superfamily of proteins containing 48 members which on the basis of structural homology are grouped into 7 sub-families (Dean et al., 2001 ).”
ABC transporters: The power to change (2009, background): “, whereas ∼50 ABC transporters are present in human”
The role of ABC transporters in clinical practice. (2003, background): “To date, 48 human ABC genes have been identified [ 14 ].”
ABC multidrug transporters: structure, function and role in chemoresistance. (2008, background): “They have been classified into 7 sub-families based on phylogenetic analysis [2].”