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Cited by 1,571

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Mammalian ABC Transporters in Health and Disease

Open access
Borst, P., Elferink, R. Oude·2002·Annual Review of Biochemistry

Abstract

▪ Abstract The ATP-binding cassette (ABC) transporters are a family of large proteins in membranes and are able to transport a variety of compounds through membranes against steep concentration gradients at the cost of ATP hydrolysis. The available outline of the human genome contains 48 ABC genes; 16 of these have a known function and 14 are associated with a defined human disease. Major physiological functions of ABC transporters include the transport of lipids, bile salts, toxic compounds, and peptides for antigen presentation or other purposes. We review the functions of mammalian ABC transporters, emphasizing biochemical mechanisms and genetic defects. Our overview illustrates the importance of ABC transporters in human physiology, toxicology, pharmacology, and disease. We focus on three topics: (a) ABC transporters transporting drugs (xenotoxins) and drug conjugates. (b) Mammalian secretory epithelia using ABC transporters to excrete a large number of substances, sometimes against a steep concentration gradient. Several inborn errors in liver metabolism are due to mutations in one of the genes for these pumps; these are discussed. (c) A rapidly increasing number of ABC transporters are found to play a role in lipid transport. Defects in each of these transporters are involved in human inborn or acquired diseases.

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Crossref · 10.1146/annurev.biochem.71.102301.093055

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Metadata

Authors
Borst, P., & Elferink, R. O.
Venue
Annual Review of Biochemistry
Published
2002-06
Volume
71
Issue
1
Pages
537-592
ISSN
  • 0066-4154 (ISSN-L)
  • 1545-4509
OpenAlex
W2140744545
Cited by
1,571
References
16
FWCI
4.81
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: Mammalian ABC Transporters in Health and Disease. https://app.cochat.ai/papers/10.1146/annurev.biochem.71.102301.093055
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Borst, P., & Elferink, R. O. (2002). Mammalian ABC Transporters in Health and Disease. Annual Review of Biochemistry. https://doi.org/10.1146/annurev.biochem.71.102301.093055

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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.