Gene NLRP3
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Also known as
NACHT, LRR and PYD domains-containing protein 3, cryopyrin, CIAS1, PYPAF1Overview
NLRP3 (NACHT, LRR and PYD Domains-Containing Protein 3) encodes cryopyrin, a key component of the NLRP3 inflammasome. This multiprotein complex is a sensor of cellular stress and danger signals, triggering inflammation through activation of caspase-1 and release of IL-1β and IL-18. The NLRP3 inflammasome is critical for innate immune responses to pathogens and tissue damage.Gain-of-function mutations in NLRP3 cause cryopyrin-associated periodic syndromes (CAPS), including familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and neonatal-onset multisystem inflammatory disease. These conditions feature episodic fever, rash, and inflammation. Common NLRP3 variants may also influence baseline inflammatory tone and contribute to conditions like gout and atherosclerosis.
Understanding your NLRP3 genetic status provides insights into inflammasome function and inflammatory responses. This information is relevant for understanding autoinflammatory disease risk, baseline inflammation levels, and potentially response to IL-1 blocking therapies.