This gene encodes a pyrin-like protein containing a pyrin domain，a nucleotide-binding site (NBS) domain，and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC，which contains a caspase recruitment domain，and is a member of the NALP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling，and it plays a role in the regulation of inflammation，the immune response，and apoptosis. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS)，Muckle-Wells syndrome (MWS)，chronic infantile neurological cutaneous and articular (CINCA) syndrome，and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however，insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid.
