EXD3
Chr 9exonuclease 3'-5' domain containing 3
Also known as: Nbr, mut-7
The protein functions as a 3'-5' exoribonuclease that trims the 3' ends of microRNAs bound to AGO1, playing a critical role in microRNA processing. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability and developmental delay. This gene is extremely intolerant to loss-of-function mutations, indicating that proper dosage is essential for normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EXD3 · 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