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The Human ATP-Binding Cassette (ABC) Transporter Superfamily
  • Michael Dean,
  • Karobi Moitra,
  • Rando Allikmets
Michael Dean
National Cancer Institute Division of Cancer Epidemiology and Genetics
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Karobi Moitra
Trinity University
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Rando Allikmets
Columbia University
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Abstract

The ATP-binding cassette (ABC) transporter superfamily comprises membrane proteins that efflux various substrates across extra- and intra-cellular membranes. Mutations in ABC genes cause 21 human disorders or phenotypes with Mendelian inheritance, including cystic fibrosis, adrenoleukodystrophy, retinal degeneration, cholesterol, and bile transport defects. Common polymorphisms and rare variants in ABC genes are associated with several complex phenotypes such as gout, gallstones, and cholesterol levels. Overexpression or amplification of specific drug efflux genes contributes to chemotherapy multidrug resistance. Conservation of the ATP-binding domains of ABC transporters defines the superfamily members, and phylogenetic analysis groups the 48 human ABC transporters into seven distinct subfamilies. While the conservation of ABC genes across most vertebrate species is high, there is also considerable gene duplication, deletion, and evolutionary diversification.

Peer review status:Published

17 Dec 2021Submitted to Human Mutation
17 Dec 2021Assigned to Editor
17 Dec 2021Submission Checks Completed
20 Dec 2021Reviewer(s) Assigned
07 Jan 2022Review(s) Completed, Editorial Evaluation Pending
13 Jan 2022Editorial Decision: Revise Major
01 Jul 2001Published in Genome Research volume 11 issue 7 on pages 1156-1166. 10.1101/gr.184901