Michael Dean, National Cancer Institute, Frederick, Maryland, USA
Published online: July 2008
DOI: 10.1002/9780470015902.a0006132.pub2
The adenosine triphosphate (ATP)-binding cassette (ABC) genes encode transporters that are expressed on the cell membrane or organelle membranes and are involved in the export of substances out of the cell or the movement of compounds inside the cell. Many ABC genes are mutated in human diseases or have a role in drug resistance to cancer chemotherapy.
Keywords: ATP-binding cassette; drug resistance; genetic disease; cystic fibrosis; transport; evolution
| References | |
| Allikmets R (2000) Simple and complex ABCR: genetic predisposition to retinal disease. American Journal of Human Genetics 67: 793–799. | |
| Annilo T, Chen ZQ, Shulenin S et al. (2006) Evolution of the vertebrate ABC gene family: analysis of gene birth and death. Genomics 88: 1–11. | |
| Borst P, Evers R, Kool M and Wijnholds J (2000) A family of drug transporters: the multidrug resistance-associated proteins. Journal of the National Cancer Institute 92: 1295–1302. | |
| Dean M and Allikmets R (1995) Evolution of ATP-binding cassette transporter genes. Current Opinion in Genetics & Development 5: 779–785. | |
| Dean M, Rzhetsky A and Allikmets R (2001) The human ATP-binding cassette (ABC) transporter superfamily. Genome Research 11: 1156–1166. | |
| Gottesman MM, Fojo T and Bates SE (2002) Multidrug resistance in cancer: role of ATP-dependent transporters. Nature Reviews. Cancer 2: 48–58. | |
| Higgins CF (1992) ABC transporters: from micro-organisms to man. Annual Reviews in Cell Biology 8: 67–113. | |
| Hvorup RN, Goetz BA, Niederer M et al. (2007) Asymmetry in the Structure of the ABC Transporter Binding Protein Complex BtuCD-BtuF. Science 317(5843): 1387–1390. | |
| Kolaczkowski M and Goffeau A (1997) Active efflux by multidrug transporters as one of the strategies to evade chemotherapy and novel practical implications of yeast pleiotropic drug resistance. Pharmacology and Therapeutics 76: 219–242. | |
| Lewis RA, Shroyer NF, Singh N et al. (1999) Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. American Journal of Human Genetics 64: 422–434. | |
| Miyake K, Mickley L, Litman T et al. (1999) Molecular cloning of cDNAs which are highly overexpressed in mitoxantrone-resistant cells: demonstration of homology to ABC transport genes. Cancer Research 59: 8–13. | |
| Pier GB, Grout M, Zaidi T et al. (1998) Salmonella typhi uses CFTR to enter intestinal epithelial cells. Nature 393: 79–82. | |
| Shulenin S, Nogee LM, Annilo T et al. (2004) ABCA3 gene mutations in newborns with fatal surfactant deficiency. The New England Journal of Medicine 350: 1296–1303. | |
| Further Reading | |
| Ambudkar SV and Gottesman MM (1998) ABC transporters: biochemical, cellular, and molecular aspects. Methods in Enzymology 292: 1–853. | |
| Annilo T, Chen ZQ, Shulenin S et al. (2006) Evolution of the vertebrate ABC gene family: analysis of gene birth and death. Genomics 88: 1–11. | |
| Dean M and Annilo T (2005) Evolution of the ATP-binding cassette (ABC) transporter superfamily in vertebrates. Annual Review of Genomics and Human Genetics 6: 123–142. | |
| Decottignies A and Goffeau A (1997) Complete inventory of the yeast ABC proteins. Nature Genetics 15: 137–145. | |
| book Hodson ME and Geddes DM (2000) Cystic Fibrosis. New York: Oxford University Press. | |
| Li G, Shi P and Wang Y (2007) Evolutionary dynamics of the ABCA chromosome 17q24 cluster genes in vertebrates. Genomics 89: 385–391. | |
| Web Links | |
| ePath ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4); LocusID: 24. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=24 | |
| ePath ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4); MIM number: 601691. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?601691 | |
| ePath ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1); LocusID: 5243. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5243 | |
| ePath ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1); MIM number: 171050. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?171050 | |
| ePath ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (CFTR); LocusID: 1080. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1080 | |
| ePath ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (CFTR); MIM number: 602421. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?602421 | |
| ePath ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1); LocusID: 215. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=215 | |
| ePath ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1); MIM number: 300100. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?300100 | |
| ePath ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1) (ABCG5); LocusID: 64240. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=64240 | |
| ePath ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1) (ABCG5); MIM number: 605459. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?605459 | |
| ePath HGNC ABC Gene Family Nomenclature. HUGO gene nomenclature committe page on ABC genes http://www.genenames.org/genefamily.html | |
| ePath 48 Human ATP-Binding Cassette Transporters. Part of a transporter gene website with links to other websites, review articles and information http://nutrigene.4t.com/humanabc.htm | |
| ePath Monograph. The Human ATP-Binding cassette (ABC) transporter superfamily. This is an online monograph on ABC genes with links to other databases and references http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.view.ShowTOC&rid=mono_001.TOC&depth=2 | |
| ePath Online Mendelian Inheritance in Man (OMIM) http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM | |
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