Article
Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.
Protein science : a publication of the Protein Society - 1 Nov 2010
Kelly Libusha, Fukushima Hisayo, Karchin Rachel, Gow Jason M, Chinn Leslie W, Pieper Ursula, Segal Mark R, Kroetz Deanna L, Sali Andrej
Abstract excerpt
The human ATP-binding cassette (ABC) transporter superfamily consists of 48 integral membrane proteins that couple the action of ATP binding and hydrolysis to the transport of diverse substrates across cellular membranes. Defects in 18 transporters have been implicated in human disease. In hundreds of cases, disease phenotypes and defects in function can be traced to nonsynonymous single nucleotide polymorphisms...
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