General description

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.

Immunogen

A synthetic peptide corresponding to a sequence within amino acids 900 to the C-terminus of human NLRP3 (NP_001120934.1).

Physical form

PBS with 0.02% sodium azide,50% glycerol,pH7.3.

Storage and Stability

Store at -20℃. Avoid freeze / thaw cycles.