CNPY3
Function
Toll-like receptor (TLR)-specific co-chaperone for HSP90B1. Required for proper TLR folding, except that of TLR3, and hence controls TLR exit from the endoplasmic reticulum. Consequently, required for both innate and adaptive immune responses (By similarity).
Involvement in disease
Developmental and epileptic encephalopathy 60
DEE60
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE60 is an autosomal recessive condition characterized by onset of seizures in the first months of life.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the canopy family.
Cellular localization
- Endoplasmic reticulum
Alternative names
CTG4A, ERDA5, PRAT4A, TNRC5, HSPC084, UNQ1934/PRO4409, CNPY3, Protein canopy homolog 3, CTG repeat protein 4a, Expanded repeat-domain protein CAG/CTG 5, Protein associated with TLR4, Trinucleotide repeat-containing gene 5 protein