AP2M1

Chr 3AD

adaptor related protein complex 2 subunit mu 1

Also known as: AP50, CLAPM1, MRD60, mu2

NCBI Gene: 1173 ENSG00000161203 UniProt: Q96CW1 OMIM: 601024

The AP2M1 protein is a component of the adaptor protein complex 2 (AP-2) that functions in clathrin-mediated endocytosis, cargo selection, and synaptic vesicle recycling. Mutations cause autosomal dominant intellectual developmental disorder with seizures. This represents a neurodevelopmental condition affecting cognitive function and seizure control through disruption of cellular membrane trafficking processes.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder, autosomal dominant 60, with seizuresMIM #618587

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.19

LOEUF· LoF intol.

LOF

Mechanism· predicted