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This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site domain, and a leucine-rich repeat 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, and neonatal-onset multisystem inflammatory disease. 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.
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Protein Aliases: cold autoinflammatory syndrome 1 homolog; Cold autoinflammatory syndrome 1 protein homolog; Cryopyrin; FLJ95925; mast cell maturation inducible protein 1; Mast cell maturation-associated-inducible protein 1; NACHT, LRR and PYD domains-containing protein 3; NACHT/LRR/pyrin domain-containing protein 3; PYRIN-containing APAF1-like protein 1
Gene Aliases: AGTAVPRL; AII/AVP; Cias1; FCAS; FCU; Mmig1; MWS; NALP3; Nlrp3; Pypaf1
UniProt ID: (Mouse) Q8R4B8
Entrez Gene ID: (Mouse) 216799
Molecular Function: non-motor microtubule binding protein