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Adaptor related protein complex 2 subunit mu 1 (AP2M1) encodes the medium (mu) subunit of the heterotetrameric clathrin adaptor protein complex 2 (AP-2), essential for clathrin-mediated endocytosis. The AP-2 complex is comprised of two large subunits (alpha, beta), one medium subunit (mu, AP2M1), and one small subunit (sigma). AP2M1 interacts with the cytoplasmic tails of membrane proteins carrying specific signal motifs (Y-X-X-Φ), mediating their selection as cargo during vesicle formation at the plasma membrane. This process enables selective internalization of transmembrane proteins, receptor recycling, and trafficking to endosomes and lysosomes, with implications for receptor-mediated signaling, neurotransmission, and lysosomal function. Mutations in AP2M1 are causative for a spectrum of neurodevelopmental disorders, and dysfunction may contribute to neurodegeneration including familial Alzheimer’s disease via effects on protein quality control and autophagy.
Not directly targeted by approved drugs; participates in cargo protein internalization processes and could influence the cellular response to drugs that depend on endocytosis of target proteins/proteins recycled from the cell surface
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