Ontology highlight
ABSTRACT:
SUBMITTER: Nesbit MA
PROVIDER: S-EPMC3605788 | biostudies-literature | 2013 Jan
REPOSITORIES: biostudies-literature
Nesbit M Andrew MA Hannan Fadil M FM Howles Sarah A SA Reed Anita A C AA Cranston Treena T Thakker Clare E CE Gregory Lorna L Rimmer Andrew J AJ Rust Nigel N Graham Una U Morrison Patrick J PJ Hunter Steven J SJ Whyte Michael P MP McVean Gil G Buck David D Thakker Rajesh V RV
Nature genetics 20121209 1
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 missense mutations of AP2 σ subunit (AP2S1) affecting Arg15, which forms key contacts wit ...[more]