Recombinant Human NACHT, LRR and PYD domains-containing protein 12 (NLRP12), partial

1. Patients with NLRP12 germline mutations and diagnosis of NLRP12-related autoinflammatory disease demonstrated highly variable clinical phenotypes. PMID:29500522
2. report the crystal structure of NLRP12 PYD domain at 1.70 A fused with an maltose-binding protein (MBP) tag PMID:29293680
3. 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
4. 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
5. This process involved the upregulation of NLRP12. PMID:26329693
6. Variants of NLRP12 were associated with common variable immunodeficiency. PMID:26122175
7. 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
8. The genetics, expression and roles of NLRP12 in inflammatory signaling, host defense, and carcinogenesis are reviewed. Review. PMID:25249449
9. This study suggested that NLRP12 mutations might account for a small fraction of common variable immunodeficiency patients with severe auto-inflammatory complications. PMID:25064839
10. We will focus on NLRP6 and NLRP12. PMID:24338634
11. Letter: NLRP12 mutations associated with familial cold autoinflammatory syndrome 2 in Italian patients. PMID:24064030
12. 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
13. 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
14. 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
15. regulates activation of NF-kappa B and caspase-1-dependent cytokine processing PMID:12019269
16. Monarch-1 enhances nonclassical and classical major histocompatibility complex class I expression at the level of the promoter, RNA, and protein expression. PMID:12759408
17. Monarch-1 associates with IRAK-1 but not MyD88, resulting in the blockage of IRAK-1 hyperphosphorylation PMID:16203735
18. 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
19. Heat shock protein 90 is a critical regulator of Monarch-1 anti-inflammatory activity PMID:17947705
20. ATP binding by NLRP12 is critical for its inhibitory function. PMID:18160710
21. Two mutations, nonsense and splice site, were identified in NALP12 in two families with periodic fever syndromes. PMID:18230725
22. 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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HGNC: 22938

UNIGENE: Hs.631573

KEGG: hsa:91662

STRING: 9606.ENSP00000319377

OMIM: 609648