Gene Symbol | NLRP3 |
Entrez Gene ID | 114548 |
Full Name | NLR family pyrin domain containing 3 |
Synonyms | AGTAVPRL,AII,AVP,C1orf7,CIAS1,CLR1.1,DFNA34,FCAS,FCAS1,FCU,MWS,NALP3,PYPAF1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Familial cold-induced inflammatory syndrome 1, 120100 (3); Muckle-Wells syndrome, 191900 (3); CINCA syndrome, 607115 (3); Deafness, autosomal dominant 34, with or without inflammation, 617772 (3) |