NEDLBAS
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 is involved in transcriptional gene silencing and mRNA degradation. Mutations cause neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, inherited in an autosomal dominant pattern. This condition affects early development with prominent impacts on language acquisition and behavior regulation.
Primary Disease Associations & Inheritance
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDLBAS?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NEDLBAS · 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 →No open access results found
External Resources
Links to major genomics databases and tools