Human ATP-binding cassette (ABC) transporter family
<p>Abstract</p> <p>There exist four fundamentally different classes of membrane-bound transport proteins: ion channels; transporters; aquaporins; and ATP-powered pumps. ATP-binding cassette (ABC) transporters are an example of ATP-dependent pumps. ABC transporters are ubiquitous me...
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doaj-96d2ab4ae58d417380d3b863fd428cd82020-11-25T01:49:16ZengBMCHuman Genomics1479-73642009-04-013328129010.1186/1479-7364-3-3-281Human ATP-binding cassette (ABC) transporter familyVasiliou VasilisVasiliou KonstandinosNebert Daniel W<p>Abstract</p> <p>There exist four fundamentally different classes of membrane-bound transport proteins: ion channels; transporters; aquaporins; and ATP-powered pumps. ATP-binding cassette (ABC) transporters are an example of ATP-dependent pumps. ABC transporters are ubiquitous membrane-bound proteins, present in all prokaryotes, as well as plants, fungi, yeast and animals. These pumps can move substrates in (influx) or out (efflux) of cells. In mammals, ABC transporters are expressed predominantly in the liver, intestine, blood-brain barrier, blood-testis barrier, placenta and kidney. ABC proteins transport a number of endogenous substrates, including inorganic anions, metal ions, peptides, amino acids, sugars and a large number of hydrophobic compounds and metabolites across the plasma membrane, and also across intracellular membranes. The human genome contains 49 <it>ABC </it>genes, arranged in eight subfamilies and named via divergent evolution. That <it>ABC </it>genes are important is underscored by the fact that mutations in at least I I of these genes are already known to cause severe inherited diseases (eg cystic fibrosis and X-linked adrenoleukodystrophy [X-ALD]). ABC transporters also participate in the movement of most drugs and their metabolites across cell surface and cellular organelle membranes; thus, defects in these genes can be important in terms of cancer therapy, pharmacokinetics and innumerable pharmacogenetic disorders.</p> http://www.humgenomics.com/content/3/3/281human genomehuman ATP-binding cassette (ABC) transporter gene familygenetic polymorphismevolutiondrug transportcancer chemotherapy |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Vasiliou Vasilis Vasiliou Konstandinos Nebert Daniel W |
spellingShingle |
Vasiliou Vasilis Vasiliou Konstandinos Nebert Daniel W Human ATP-binding cassette (ABC) transporter family Human Genomics human genome human ATP-binding cassette (ABC) transporter gene family genetic polymorphism evolution drug transport cancer chemotherapy |
author_facet |
Vasiliou Vasilis Vasiliou Konstandinos Nebert Daniel W |
author_sort |
Vasiliou Vasilis |
title |
Human ATP-binding cassette (ABC) transporter family |
title_short |
Human ATP-binding cassette (ABC) transporter family |
title_full |
Human ATP-binding cassette (ABC) transporter family |
title_fullStr |
Human ATP-binding cassette (ABC) transporter family |
title_full_unstemmed |
Human ATP-binding cassette (ABC) transporter family |
title_sort |
human atp-binding cassette (abc) transporter family |
publisher |
BMC |
series |
Human Genomics |
issn |
1479-7364 |
publishDate |
2009-04-01 |
description |
<p>Abstract</p> <p>There exist four fundamentally different classes of membrane-bound transport proteins: ion channels; transporters; aquaporins; and ATP-powered pumps. ATP-binding cassette (ABC) transporters are an example of ATP-dependent pumps. ABC transporters are ubiquitous membrane-bound proteins, present in all prokaryotes, as well as plants, fungi, yeast and animals. These pumps can move substrates in (influx) or out (efflux) of cells. In mammals, ABC transporters are expressed predominantly in the liver, intestine, blood-brain barrier, blood-testis barrier, placenta and kidney. ABC proteins transport a number of endogenous substrates, including inorganic anions, metal ions, peptides, amino acids, sugars and a large number of hydrophobic compounds and metabolites across the plasma membrane, and also across intracellular membranes. The human genome contains 49 <it>ABC </it>genes, arranged in eight subfamilies and named via divergent evolution. That <it>ABC </it>genes are important is underscored by the fact that mutations in at least I I of these genes are already known to cause severe inherited diseases (eg cystic fibrosis and X-linked adrenoleukodystrophy [X-ALD]). ABC transporters also participate in the movement of most drugs and their metabolites across cell surface and cellular organelle membranes; thus, defects in these genes can be important in terms of cancer therapy, pharmacokinetics and innumerable pharmacogenetic disorders.</p> |
topic |
human genome human ATP-binding cassette (ABC) transporter gene family genetic polymorphism evolution drug transport cancer chemotherapy |
url |
http://www.humgenomics.com/content/3/3/281 |
work_keys_str_mv |
AT vasiliouvasilis humanatpbindingcassetteabctransporterfamily AT vasilioukonstandinos humanatpbindingcassetteabctransporterfamily AT nebertdanielw humanatpbindingcassetteabctransporterfamily |
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