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 NLRP3 inflammasome complex. This complex functions as an upstream activator of NFkappaB
signaling, and it plays a role in the regulation of inflammation, the immune response, and
apoptosis. The SARS-CoV 3a protein, a transmembrane pore-forming viroporin, has been shown to
activate the NLRP3 inflammasome via the formation of ion channels in macrophages. Mutations in
this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells
syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome,
neonatal-onset multisystem inflammatory disease (NOMID), keratoendotheliitis fugax hereditarian,
and deafness, autosomal dominant 34, with or without inflammation. 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.