NALP3 / NLRP3 is 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.
|Gene Name:||NLR family, pyrin domain containing 3|
|Synonyms:||NLRP3, AGTAVPRL, AII, C1orf7, Caterpiller protein 1.1, Cryopyrin, FCAS, FCU, PYPAF1, NALP3, CIAS1, CLR1.1, MWS|
|Target Sequences:||NM_004895 NP_004886.3 Q96P20|
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