CPRiL

NLRP3

NLR family pyrin domain containing 3

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]

• NACHT, LRR and PYD domains-containing protein 3
• NACHT domain-, leucine-rich repeat-, and PYD-containing protein 3
• NACHT, LRR and PYD containing protein 3
PYRIN-containing APAF1-like protein 1
caterpiller protein 1.1
cold autoinflammatory syndrome 1 protein
cold-induced autoinflammatory syndrome 1 protein
cryopyrin
cryopyrin, NACHT, LRR and PYD domains - containing protein 3
deafness, autosomal dominant 34
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3
AGTAVPRL
AII
AVP
C1orf7
CIAS1
CLR1.1
DFNA34
FCAS
FCAS1
FCU
KEFH
MWS
NALP3
PYPAF1