AP3B2
Chr 15ARadaptor related protein complex 3 subunit beta 2
The AP3B2 protein is the beta subunit of the neuron-specific adaptor protein complex 3 (AP-3), which mediates protein sorting in the late-Golgi/trans-Golgi network and targeting of cargos to neurites and nerve terminals. Biallelic mutations cause developmental and epileptic encephalopathy 48, an early-onset seizure disorder with autosomal recessive inheritance. The gene shows high constraint against loss-of-function variants (LOEUF 0.342), indicating that such variants are likely pathogenic.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AP3B2 · 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