The human ATP-binding cassette (ABC) transporter superfamily
Open accessAbstract
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.
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The first line of cellular defense against amphipathic or slightly lipophilic compounds is active expulsion by ABC or multidrug efflux transporters.
“The first line of cellular defense, against amphipathic or slightly lipophilic compounds in particular, is the active expulsion of these compounds by efflux proteins known as ATP Binding Cassette (ABC) or multidrug efflux transporters”
From The chemical defensome: Environmental sensing and response genes in the Strongylocentrotus purpuratus genome (2006) · cites this paper as Dean et al., 2001
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Flagged first, then by citations
Research works printed but not linked: 3
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- Authors
- Dean, M., Hamon, Y., & Chimini, G.
- Affiliations
- Frederick National Laboratory for Cancer Research (US)
- Centre National de la Recherche Scientifique (FR)
- Corresponding author
- Dean, Michael
- Venue
- Journal of Lipid Research
- Publisher
- Elsevier BV
- Published
- 2001-07
- Volume
- 42
- Issue
- 7
- Pages
- 1007-1017
- ISSN
- 0022-2275 (ISSN-L)
- OpenAlex
- W1908587496
- Cited by
- 1,302
- References
- 122
- Citations by year
- 2026: 29 · 2025: 39 · 2024: 36 · 2023: 41 · 2022: 67 · 2021: 70 · 2020: 56 · 2019: 50 · 2018: 47 · 2017: 46 · 2016: 55 · 2015: 60 · 2014: 69 · 2013: 70 · 2012: 57
- FWCI
- 21.18
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Journal of Lipid Research (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Topics
- Health Sciences › Medicine › Oncology › Drug Transport and Resistance Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › ATP Synthase and ATPases Research
- Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
- Keywords
- ABC transporters, membrane transport, inherited genetic disorders, cystic fibrosis, cholesterol transport, bile transport, fatty acid uptake, sterol transport, Saccharomyces cerevisiae, Drosophila, Caenorhabditis elegans
- MeSH terms
- Animals, Cystic Fibrosis, Genes, Humans, Membranes, Retinal Degeneration, ATP-Binding Cassette Transporters, Genes, MDR, Genetic Diseases, Inborn
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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