CNPY3
Chr 6ARcanopy FGF signaling regulator 3
Also known as: CAG4A, DEE60, EIEE60, ERDA5, PRAT4A, TNRC5
The protein functions as a co-chaperone for HSP90B1 and is required for proper folding and endoplasmic reticulum export of most toll-like receptors, controlling both innate and adaptive immune responses. Biallelic mutations cause developmental and epileptic encephalopathy 60, inherited in an autosomal recessive pattern. This represents a neuroinflammatory condition affecting both developmental and epileptic manifestations in the pediatric population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CNPY3 · 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