APBA1
Chr 9amyloid beta precursor protein binding family A member 1
Also known as: D9S411E, LIN10, MINT1, X11, X11A, X11ALPHA
The protein functions as a neuronal adapter protein that regulates synaptic vesicle exocytosis and transports NMDA receptor subunits along microtubules, while also modulating amyloid precursor protein processing. Mutations cause autosomal dominant intellectual disability with variable neurological features. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.388), suggesting that complete loss of protein function is poorly tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
APBA1 · 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