Target intelligence / Profile preview

Adaptor related protein complex 2 subunit mu 1 (AP2M1)

Target
AP2M1
Molecular classification
Adaptor protein complex subunit, Vesicular trafficking protein, Other
01

Overview

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.

Other names
AP-2 complex subunit muAP2M1CLAPM1KIAA0109AP50mu2AP-2 mu chainAdaptin-mu2Adaptor protein complex AP-2 subunit muAdaptor-related protein complex 2 subunit muClathrin assembly protein complex 2 mu medium chainClathrin coat assembly protein AP50Clathrin coat-associated protein AP50HA2 50 kDa subunitPlasma membrane adaptor AP-2 50 kDa proteinclathrin-associated/assembly/adaptor protein medium 1MRD60
02

Mechanism of action

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

03

Biological functions

Clathrin-mediated endocytosisVesicle formation and cargo selectionReceptor-mediated endocytosisProtein transportSignal transductionRegulation of membrane protein traffickingEndosomal/lysosomal acidification
04

Disease associations

Intellectual developmental disorder, autosomal dominant 60, with seizuresFamilial Alzheimer’s disease (suspected mechanistic link)Myoclonic-atonic epilepsyOther (potential roles in neurological disorders)
05

Safety considerations

Mutations linked to neurological disease and seizuresPotential general concerns regarding vesicle trafficking defects: altered receptor internalization may affect diverse signaling pathways and cell viability

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