AGO3
Chr 1argonaute RISC catalytic component 3
Also known as: EIF2C3
The protein is an Argonaute family member that binds small RNAs like microRNAs and mediates RNA interference by repressing translation of complementary mRNAs and degrading select target RNAs. Mutations cause neurodevelopmental disorders with intellectual disability, developmental delay, and behavioral abnormalities, inherited in an autosomal dominant pattern. This gene is highly constrained against loss-of-function variation, indicating that functional copies are essential for normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Extremely missense-constrained (top ~0.01%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AGO3 · 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