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nlrp3

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Official Full Name
NLR family, pyrin domain containing 3
Background
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.
Synonyms
NLRP3; NLR family, pyrin domain containing 3; C1orf7, CIAS1, cold autoinflammatory syndrome 1; NACHT, LRR and PYD domains-containing protein 3; AGTAVPRL; AII; AVP; CLR1.1; Cryopyrin; FCAS; FCU; MWS; NALP3; nucleotide binding oligomerization domain; leuci; leucine rich repeat and pyrin domain containing 3; PYPAF1; caterpiller protein 1.1; PYRIN-containing APAF1-like protein 1; NACHT, LRR and PYD containing protein 3; cold autoinflammatory syndrome 1 protein; NACHT domain-, leucine-rich repeat-, and PYD-containing protein 3; nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3; CIAS1; C1orf7; FLJ95925

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