NLRP3(redirected from cold autoinflammatory syndrome 1)
NLRP3A gene located on chromosome 1q44 that encodes a pyrin-like protein that interacts with the apoptosis-associated speck-like protein PYCARD/ASC. NLRP3 has a caspase recruitment domain, and belongs to the NALP3 inflammasome complex; it plays a role in regulating inflammation and apoptosis.
NLRP3 mutations are associated with chronic infantile neurological cutaneous and articular (CINCA) syndrome, familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and neonatal-onset multisystem inflammatory disease (NOMID).
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