AGO1
Chr 1ADargonaute RISC component 1
Also known as: EIF2C, EIF2C1, GERP95, NEDLBAS, Q99, hAgo1
The protein binds to microRNAs and small interfering RNAs to repress translation of complementary mRNAs and mediate transcriptional gene silencing, functioning as a key component of the RNA interference pathway. Mutations cause autosomal dominant neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures. This gene is highly constrained against loss-of-function variants, indicating that such variants are likely pathogenic when they occur.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Extremely missense-constrained (top ~0.01%)
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
AGO1 · 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