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貨期:
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Plays an essential role as an potent mitigator of inflammation. Primarily expressed in dendritic cells and macrophages, inhibits both canonical and non-canonical NF-kappa-B and ERK activation pathways. Functions as a negative regulator of NOD2 by targeting it to degradation via the proteasome pathway. In turn, promotes bacterial tolerance. Inhibits also the DDX58-mediated immune signaling against RNA viruses by reducing the E3 ubiquitin ligase TRIM25-mediated 'Lys-63'-linked DDX58 activation but enhancing the E3 ubiquitin ligase RNF125-mediated 'Lys-48'-linked DDX58 degradation. Acts also as a negative regulator of inflammatory response to mitigate obesity and obesity-associated diseases in adipose tissue.
基因功能參考文獻(xiàn):
Patients with NLRP12 germline mutations and diagnosis of NLRP12-related autoinflammatory disease demonstrated highly variable clinical phenotypes. PMID: 29500522
report the crystal structure of NLRP12 PYD domain at 1.70 A fused with an maltose-binding protein (MBP) tag PMID: 29293680
all of the reported mutations were found to have occurred in a highly conserved region in the NACHT domain coding sequence in NLRP12 exon 3, suggesting that a screening strategy for Familial cold autoinflammatory syndrome should focus on this area of the gene PMID: 27314497
The novel findings reveal the critical role of NLRP12-IL-17A-CXCL1 axis in host defense by modulating neutrophil recruitment against Klebsiella pneumoniae. PMID: 26349659
This process involved the upregulation of NLRP12. PMID: 26329693
Variants of NLRP12 were associated with common variable immunodeficiency. PMID: 26122175
NLRP12/NLRP3-dependent activation of caspase-1 is likely to be a key event in mediating systemic production of IL-1beta and hypersensitivity to secondary bacterial infection during malaria. PMID: 24453977
The genetics, expression and roles of NLRP12 in inflammatory signaling, host defense, and carcinogenesis are reviewed. Review. PMID: 25249449
This study suggested that NLRP12 mutations might account for a small fraction of common variable immunodeficiency patients with severe auto-inflammatory complications. PMID: 25064839
Letter: NLRP12 mutations associated with familial cold autoinflammatory syndrome 2 in Italian patients. PMID: 24064030
Even with a variable range of associated manifestations, the extreme sensitivity to cold represents the main clinical hallmark in an individual carrying the p.D294E mutation of the NLRP12 gene. PMID: 21360512
The authors report the first in vitro confirmed non-homotypic interaction between NLRP12 pyrin domain and the pro-apoptotic protein Fas-associated factor 1 (FAF-1), which links the innate immune system to apoptotic signaling. PMID: 21978668
NLRP12 missense mutation in periodic fever syndromes; study provides evidence of deleterious effect of an NLRP12 missense mutation; this newly identified molecular defect emphasizes the crucial role played by NLRP12 in autoinflammation PMID: 21538323
regulates activation of NF-kappa B and caspase-1-dependent cytokine processing PMID: 12019269
Monarch-1 enhances nonclassical and classical major histocompatibility complex class I expression at the level of the promoter, RNA, and protein expression. PMID: 12759408
Monarch-1 associates with IRAK-1 but not MyD88, resulting in the blockage of IRAK-1 hyperphosphorylation PMID: 16203735
Monarch-1 inhibits CD40-mediated activation of NF-kappaB via the non-canonical pathway in human monocytes. This inhibition stems from the ability of Monarch-1 to associate with and induce proteasome-mediated degradation of NF-kappaB inducing kinase PMID: 17237370
Heat shock protein 90 is a critical regulator of Monarch-1 anti-inflammatory activity PMID: 17947705
ATP binding by NLRP12 is critical for its inhibitory function. PMID: 18160710
Two mutations, nonsense and splice site, were identified in NALP12 in two families with periodic fever syndromes. PMID: 18230725
Relative copy numbers for the inflammasome mRNAs for ASC, caspase-1, NALP1, and Pypaf-7 were significantly lower in patients with septic shock compared with critically ill control subjects. PMID: 18263805
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Familial cold autoinflammatory syndrome 2 (FCAS2)
亞細(xì)胞定位:
Cytoplasm.
蛋白家族:
NLRP family
組織特異性:
Detected only in peripheral blood leukocytes, predominantly in eosinophils and granulocytes, and at lower levels in monocytes.