NACHT Antibody – Rabbit Polyclonal

NLRP3: May function as an inducer of apoptosis. Interacts selectively with ASC and this complex may function as an upstream activator of NF-kappa-B signaling. Inhibits TNF-alpha induced activation and nuclear translocation of RELA/NF-KB p65. Also inhibits transcriptional activity of RELA. Activates caspase-1 in response to a number of triggers including bacterial or viral infection which leads to processing and release of IL1B and IL18. Defects in NLRP3 are the cause of familial cold autoinflammatory syndrome type 1 (FCAS1); also known as familial cold urticaria. FCAS are rare autosomal dominant systemic inflammatory diseases characterized by episodes of rash, arthralgia, fever and conjunctivitis after generalized exposure to cold. Defects in NLRP3 are a cause of Muckle-Wells syndrome (MWS); also known as urticaria-deafness-amyloidosis syndrome. MWS is a hereditary periodic fever syndrome characterized by fever, chronic recurrent urticaria, arthralgias, progressive sensorineural deafness, and reactive renal amyloidosis. The disease may be severe if generalized amyloidosis occurs. Defects in NLRP3 are the cause of chronic infantile neurologic cutaneous and articular syndrome (CINCA); also known as neonatal onset multisystem inflammatory disease (NOMID). CINCA is a rare congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis and joint manifestations with recurrent fever and inflammation. Belongs to the NLRP family. 5 isoforms of the human protein are produced by alternative splicing.

Protein type: Inhibitor

Chromosomal Location of Human Ortholog: 1q44

Cellular Component: cytoplasm; cytosol

Molecular Function: protein binding; peptidoglycan binding; ATP binding

Biological Process: caspase activation; apoptosis; negative regulation of acute inflammatory response; positive regulation of caspase activity; interleukin-1 beta production; defense response; negative regulation of NF-kappaB import into nucleus; positive regulation of interleukin-1 beta secretion; signal transduction; protein oligomerization; activation of NF-kappaB transcription factor; negative regulation of interleukin-1 beta secretion; inhibition of NF-kappaB transcription factor; negative regulation of inflammatory response; interleukin-18 production; innate immune response; interleukin-1 secretion; inflammatory response; detection of biotic stimulus; defense response to virus

Disease: Cinca Syndrome; Familial Cold Autoinflammatory Syndrome 1; Muckle-wells Syndrome