Analysis of NLRP3 Gene (Mutation) in Cryopyrin Associated Periodic Syndrome by RT-qPCR (CAT#: STEM-MT-0195-LGZ)

Introduction

Also known as: AII; AVP; FCU; MWS; FCAS; KEFH; CIAS1; FCAS1; NALP3; C1orf7; CLR1.1; DFNA34; PYPAF1; AGTAVPRL
The 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 NLRP3 inflammasome complex. This complex acts as an upstream activator of NF-kappaB signaling and plays a role in the regulation of inflammation, immune response and apoptosis. The SARS-CoV 3a protein is a transmembrane pore-forming viral protein that has been shown to activate the NLRP3 inflammasome through the formation of ion channels in macrophages. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, neonatal-onset multisystem inflammatory disease (NOMID), ker atoendotheliitis fugax heredarian, and deafness , autosomal dominant 34, with or without inflammation. 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 able to determine if all of the represented 5 ' UTR splice patterns are biologically valid.