NLR Family, Pyrin Domain Containing Protein 3 (NLRP3)

NLRP3 encodes a pyrin-like protein which contains a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with apoptosis-associated speck-like protein containing a CARD. Proteins which contain the caspase recruitment domain, CARD, have been shown to be involved in inflammation and immune response. This protein may function as an activator of NF-κB signaling.The protein may play a role in the regulation of inflammation and apoptosis. Mutations in this gene have been associated with a spectrum of dominantly inherited autoinflammatory diseases called cryopyrin-associated periodic syndrome (CAPS).  Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene.