CNPY3 Human
Description
Immune System Regulation
CNPY3 ensures proper folding of TLRs (TLR1, TLR2, TLR4, TLR7-9) via HSP90B1, enabling their transport from the ER to cell membranes or endosomes . This process is vital for:
Neurological Development
CNPY3 deficiency causes severe neurodevelopmental disorders:
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West syndrome: Biallelic CNPY3 variants (e.g., c.373G>C, c.702_720dup) lead to hippocampal malrotation, epileptic spasms, and hypsarrhythmia .
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Mouse models: Cnpy3 −/− mice exhibit hyperactivity, anxiolytic behavior, and abnormal EEG fast-beta waves (20–35 Hz) .
Genetic Disorders
Cancer
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Colon adenocarcinoma: CNPY3 upregulation correlates with advanced TNM stages, poor survival, and PI3K/AKT pathway activation. Knockdown reduces proliferation and metastasis .
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Therapeutic target: Lipid nanoparticles (LNPs) delivering CNPY3 mRNA suppress flavivirus replication (e.g., Zika, dengue) by restoring TLR-mediated interferon responses .
Product Specs
Product Science Overview
CNPY3 is a 271 amino acid protein with a molecular mass of approximately 29.9 kDa. It is produced as a single, non-glycosylated polypeptide chain in Escherichia coli (E. coli) and is often fused to a 23 amino acid His-tag at the N-terminus for purification purposes . The protein solution typically contains 20 mM Tris-HCl buffer (pH 8.0), 0.15 M NaCl, 10% glycerol, and 1 mM DTT .
CNPY3 functions as a co-chaperone for HSP90B1, a heat shock protein. It is specifically required for the proper folding of Toll-like receptors, excluding TLR3, and controls their exit from the endoplasmic reticulum . This process is vital for the immune system’s ability to recognize and respond to pathogens.
The role of CNPY3 in the immune system is significant due to its involvement in the folding and export of TLRs. TLRs are a class of proteins that play a key role in the innate immune system by recognizing pathogen-associated molecular patterns (PAMPs) and initiating immune responses . Without proper folding and functioning of TLRs, the immune system’s ability to detect and respond to infections would be compromised.
Mutations or dysregulation of the CNPY3 gene have been associated with various immune-related disorders. For instance, CNPY3 is linked to Developmental and Epileptic Encephalopathy 60 and West Syndrome . These associations highlight the importance of CNPY3 in maintaining immune system homeostasis and its potential as a therapeutic target.
