pyrin

Summary

Summary: A tripartite motif protein that consists of an N-terminal pyrin domain, a central coiled-coil region and B-box type ZINC FINGER, and C-terminal regions that mediate homotrimerization and interactions with other proteins (the B30.2/SPRY DOMAIN). It is expressed primarily by mature GRANULOCYTES and associates with the cytoskeleton in the perinuclear area as well as AUTOPHAGOSOMES, where it co-ordinates the assembly of AUTOPHAGY-RELATED PROTEINS and degradation of INFLAMMASOME components. It functions in INNATE IMMUNITY and INFLAMMATION; mutations in the Pyrin protein (MEFV) gene are associated with FAMILIAL MEDITERRANEAN FEVER.

Top Publications

  1. Ben Chetrit E, Touitou I. Familial mediterranean Fever in the world. Arthritis Rheum. 2009;61:1447-53 pubmed publisher
  2. Rossi Semerano L, Hermeziu B, Fabre M, Kone Paut I. Macrophage activation syndrome revealing familial Mediterranean fever. Arthritis Care Res (Hoboken). 2011;63:780-3 pubmed publisher
  3. Peces R, Afonso S, Peces C, Nevado J, Selgas R. Living kidney transplantation between brothers with unrecognized renal amyloidosis as the first manifestation of familial Mediterranean fever: a case report. BMC Med Genet. 2017;18:97 pubmed publisher
    ..Finally, anakinra could be a safe adjuvant therapy combined with colchicine for patients with familial Mediterranean fever and amyloidosis, including those with successful kidney transplantation. ..
  4. Stutz A, Kolbe C, Stahl R, Horvath G, Franklin B, van Ray O, et al. NLRP3 inflammasome assembly is regulated by phosphorylation of the pyrin domain. J Exp Med. 2017;214:1725-1736 pubmed publisher
    ..phosphorylation sites in NLRP3 and demonstrate that NLRP3 activation is controlled by phosphorylation of its pyrin domain (PYD)...
  5. Cekin N, Akyurek M, Pinarbasi E, Ozen F. MEFV mutations and their relation to major clinical symptoms of Familial Mediterranean Fever. Gene. 2017;626:9-13 pubmed publisher
    ..The most common polymorphism was R202Q (13%). In addition, a novel heterozygous polymorphism at 564th nucleotide (C>T) of exon2 were found in 2 patients. ..
  6. Ogita C, Matsui K, Kisida D, Yazaki M, Nakamura A, Kaku S, et al. A retrospective analysis of 7 cases of familial mediterranean fever. Nihon Rinsho Meneki Gakkai Kaishi. 2017;40:21-27 pubmed publisher
    ..In cases of periodic symptoms or cases called periodic fever, exclusion diagnosis is carried out, there is a need to suspect FMF, determine the effect of colchicine, and perform genetic analysis. ..
  7. Ozturk A, Can T. A multiplex primer design algorithm for target amplification of continuous genomic regions. BMC Bioinformatics. 2017;18:306 pubmed publisher
    ..Our benchmarking experiments show that the proposed MPCR approach is able produce reliable NGS assay primers for a given sequence in a reasonable amount of time. ..
  8. Zhong L, Song H, Wang W, Li J, Ma M. MEFV M694V mutation has a role in susceptibility to ankylosing spondylitis: A meta-analysis. PLoS ONE. 2017;12:e0182967 pubmed publisher
    ..The present study indicates that the MEFV M694V mutation may contribute to the pathogenesis of AS. The associations between the other mutations and AS need to be validated with more relevant and well-designed studies. ..