NLRP3 (Entrez ID: 114548)

Entrez Gene ID 114548
Official Gene Symbol NLRP3 (GeneCards)
Full name NLR family pyrin domain containing 3
Location 1q44
Other ids Vega : OTTHUMG00000040647
MIM : 606416
HGNC : HGNC:16400
Ensembl : ENSG00000162711
Other names AII, AVP, FCU, MWS, FCAS, KEFH, CIAS1, FCAS1, NALP3, C1orf7, CLR1.1, DFNA34, PYPAF1, AGTAVPRL
Summary 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. [provided by RefSeq, Oct 2008]

Variants

Found 78 variants in this database.