Entrez gene ID | | 114548 |
Official gene symbol | | NLRP3 |
Full name | | NLR family, pyrin domain containing 3 |
Aliases | | ,AGTAVPRL,AII,AII/AVP,AVP,C1orf7,CIAS1,CLR1.1,FCAS,FCU,FLJ95925,MWS,NALP3,PYPAF1, |
Gene 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] |
Location | | Chromosome: 1 Locus: 1q44 |
Gene position | | 247579458 - 247612410 Map Viewer |
Gene orientation | | plus |
Gene size | | 32953 bp |
Gene sequence |
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OMIM ID | | 606416 |
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