AP2M1
Chr 3ADadaptor related protein complex 2 subunit mu 1
Also known as: AP50, CLAPM1, MRD60, mu2
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.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AP2M1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools