Article
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
Nature genetics - 1 Jan 2013
Nesbit M Andrew, Hannan Fadil M, Howles Sarah A, Reed Anita A C, Cranston Treena, Thakker Clare E, Gregory Lorna, Rimmer Andrew J, Rust Nigel, Graham Una, Morrison Patrick J, Hunter Steven J, Whyte Michael P, McVean Gil, Buck David, Thakker Rajesh V
Abstract excerpt
Adaptor protein-2 (AP2), a central component of clathrin-coated vesicles (CCVs), is pivotal in clathrin-mediated endocytosis, which internalizes plasma membrane constituents such as G protein-coupled receptors (GPCRs). AP2, a heterotetramer of α, β, μ and σ subunits, links clathrin to vesicle membranes and binds to tyrosine- and dileucine-based motifs of membrane-associated cargo proteins. Here we show that...
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