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NLRP12 May mediate activation of CASP1 via ASC and promote activation of NF-kappa-B via IKK. Defects in NLRP12 are the cause of familial cold autoinflammatory syndrome type 2 (FCAS2). FCAS are rare autosomal dominant systemic inflammatory diseases characterized by episodes of rash, arthralgia, fever and conjunctivitis after generalized exposure to cold. Belongs to the NLRP family. 5 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Chromosomal Location of Human Ortholog: 19q13.42
Cellular Component: cytoplasm; nucleus
Molecular Function: protein binding
Biological Process: inhibition of NF-kappaB transcription factor; negative regulation of cytokine secretion; negative regulation of I-kappaB kinase/NF-kappaB cascade; negative regulation of inflammatory response; negative regulation of interleukin-1 secretion; negative regulation of interleukin-6 biosynthetic process; negative regulation of protein amino acid autophosphorylation; negative regulation of signal transduction; negative regulation of Toll signaling pathway; positive regulation of MHC class I biosynthetic process; regulation of caspase activity; regulation of I-kappaB kinase/NF-kappaB cascade; release of cytoplasmic sequestered NF-kappaB
Disease: Familial Cold Autoinflammatory Syndrome 2
Reference #:  P59046 (UniProtKB)
Alt. Names/Synonyms: CLR19.3; FCAS2; monarch 1; Monarch-1; NACHT, leucine rich repeat and PYD containing 12; NACHT, LRR and PYD containing protein 12; NACHT, LRR and PYD domains-containing protein 12; NAL12; NALP12; NLR family, pyrin domain containing 12; NLRP12; nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12; PAN6; PYPAF7; PYRIN-containing APAF1-like protein 7; Regulated by nitric oxide; RNO; RNO2
Gene Symbols: NLRP12
Molecular weight: 120,173 Da
Basal Isoelectric point: 6.59  Predict pI for various phosphorylation states
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