WB:1:200-1:2000
IHC:1:200-1:1000

AII
AVP
FCU
MWS
FCAS
KEFH
CIAS1
FCAS1
NALP3
C1orf7
CLR1.1
DFNA34
PYPAF1
AGTAVPRL

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 NF-kappaB 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. [provided by RefSeq, Aug 2020]

WB:1:200-1:2000
IHC:1:200-1:1000