PBB geneid 4210 MEFV Mediterranean fever is a human gene that provides instructions for making a protein called pyrin also known as marenostrin . Pyrin is produced in certain white blood cell s neutrophil s, eosinophil s and monocyte s that play a role in inflammation and in fighting infection . Inside these white blood cells, pyrin is found with the cytoskeleton , the structural framework that helps to define the shape, size, and movement of a cell. Pyrin s protein structure also allows it to interact with other molecules involved in fighting infection and in the inflammatory response. Although pyrin s function is not fully understood, it likely assists in keeping the inflammation process under control. Research indicates that pyrin helps regulate inflammation by interacting with the cytoskeleton. Pyrin may direct the migration of white blood cells to sites of inflammation and stop or slow the inflammatory response when it is no longer needed. The MEFV gene is located on the short p arm of chromosome 16 human chromosome 16 at position 13.3, from base pair 3,292,027 to 3,306,626. ref cite web url http ghr.nlm.nih.gov gene MEFV title MEFV Mediterranean fever accessdate 2011 04 14 date ... & Human Services ref Related conditions More than 80 MEFV mutation s that cause familial Mediterranean fever have been identified. A few mutations delete small amounts of DNA from the MEFV gene, which can lead to an abnormally small protein. Most MEFV mutations, however, change one of the protein ... of developing amyloidosis among people with the M694V mutation. MEFV mutations lead to reduced amounts ... R, Brik R, Zacks N, Shinawi M, Lidar M, Livneh A title The contribution of genotypes at the MEFV ... with MEFV genotype and SAA1 and MICA polymorphisms effects journal BMC Med Genet year 2004 pages ... MN, Kone Paut I, Seguret F, Demaille J, Touitou I title Reduced MEFV messenger RNA expression ... between reduced levels of MEFV messenger RNA in peripheral blood leukocytes and acute inflammation ... more details
. ref name Livneh A genetic test is also available to detect mutations in the MEFV gene. Sequencing ... url ref Pathophysiology Virtually all cases are due to a mutation in the MEFV gene on the Chromosome ... Mediterranean fever has an autosomal recessive pattern of inheritance. The MEFV gene is located ... 4636899 doi 10.1056 NEJM197212212872514 accessdate 2012 04 20 ref The link to the MEFV gene was discovered ... syndromes References Reflist External links Proteopedia 2wl1 information about the MEFV gene. http www.ncbi.nlm.nih.gov ... more details
Infobox Disease Name Periodic fever syndrome Image Caption DiseasesDB 9836 ICD10 ICD9 ICD9 277.31 ICDO OMIM MedlinePlus eMedicineSubj article eMedicineTopic 952254 MeshID D056660 The periodic fever syndromes also known as autoinflammatory syndromes are a set of disorders, many of which are genetic disorders in which the mechanisms which initiate and control inflammation are disturbed, leading to uncontrolled inflammation throughout the body. The syndromes are diverse, but tend to cause fever, arthralgia joint pains , abdominal pain s and may lead to chronic complications such as amyloidosis . ref name pmid16093838 cite journal author Stojanov S, Kastner DL title Familial autoinflammatory diseases genetics, pathogenesis and treatment journal Curr Opin Rheumatol volume 17 issue 5 pages 586 99 year 2005 pmid 16093838 doi 10.1097 bor.0000174210.78449.6b ref Restated, autoinflammatory syndromes are a group of inherited disorders characterized by bouts of inflammatory skin lesions and periodic fevers. ref name Andrews James, William Berger, Timothy Elston, Dirk 2005 . Andrews Diseases of the Skin Clinical Dermatology . 10th ed. . Saunders. ISBN 0 7216 2921 0. ref rp 148 Periodic fever syndromes are medically distinct from immunodeficiency conditions, in which infections can occur frequently and induce fever. Individual periodic fever syndromes class wikitable Name OMIM Gene Familial Mediterranean fever FMF OMIM2 249100 MEFV Hyperimmunoglobulinemia D with recurrent fever HIDS . This is now along with mevalonic aciduria defined as a mevalonate kinase deficiency ref name pmid12861380 cite journal author Houten SM, Frenkel J, Waterham HR title Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation journal Cell. Mol. Life Sci. volume 60 issue 6 pages 1118 34 year 2003 pmid 12861380 doi 10.1007 s00018 003 2296 4 ref OMIM2 260920 MVK TNF receptor associated periodic syndrome TRAPS OMIM2 142680 TNFRSF1A Cryopyrin associated periodic syndrome CAPS Muckle W ... more details
PBB geneid 199713 NACHT, LRR and PYD domains containing protein 7 is a protein that in humans is encoded by the NLRP7 gene . ref name pmid12563287 cite journal author Tschopp J, Martinon F, Burns K title NALPs a novel protein family involved in inflammation journal Nat Rev Mol Cell Biol volume 4 issue 2 pages 95 104 year 2003 month Feb pmid 12563287 pmc doi 10.1038 nrm1019 ref ref name pmid12019269 cite journal author Wang L, Manji GA, Grenier JM, Al Garawi A, Merriam S, Lora JM, Geddes BJ, Briskin M, DiStefano PS, Bertin J title PYPAF7, a novel PYRIN containing Apaf1 like protein that regulates activation of NF kappa B and caspase 1 dependent cytokine processing journal J Biol Chem volume 277 issue 33 pages 29874 80 year 2002 month Aug pmid 12019269 pmc doi 10.1074 jbc.M203915200 ref ref name entrez cite web title Entrez Gene NLRP7 NLR family, pyrin domain containing 7 url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 199713 accessdate ref Function NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP7, have an N terminus N terminal pyrin MEFV domain PYD , followed by a NACHT domain , a NACHT associated domain NAD , and a C terminus C terminal leucine rich repeat leucine rich repeat LRR region. NALPs are implicated in the activation of proinflammatory caspase s e.g., CASP1 via their involvement in multiprotein complexes called inflammasome s. ref name entrez References reflist Further reading refbegin 2 PBB Further reading citations cite journal author Inohara N, Nu ez G title NODs intracellular proteins involved in inflammation and apoptosis. journal Nat. Rev. Immunol. volume 3 issue 5 pages 371 82 year 2003 pmid 12766759 doi 10.1038 nri1086 cite journal author Moglabey YB, Kircheisen R, Seoud M, et al. title Genetic mapping of a maternal locus responsible for familial hydatidiform moles. journal Hum. Mol. Genet. volume 8 issue 4 pages 667 71 year 1999 pmid ... more details
PBB geneid 91662 NACHT, LRR and PYD domains containing protein 12 is a protein that in humans is encoded by the NLRP12 gene . ref name pmid12563287 cite journal author Tschopp J, Martinon F, Burns K title NALPs a novel protein family involved in inflammation journal Nat Rev Mol Cell Biol volume 4 issue 2 pages 95 104 year 2003 month Feb pmid 12563287 pmc doi 10.1038 nrm1019 ref ref name pmid12019269 cite journal author Wang L, Manji GA, Grenier JM, Al Garawi A, Merriam S, Lora JM, Geddes BJ, Briskin M, DiStefano PS, Bertin J title PYPAF7, a novel PYRIN containing Apaf1 like protein that regulates activation of NF kappa B and caspase 1 dependent cytokine processing journal J Biol Chem volume 277 issue 33 pages 29874 80 year 2002 month Aug pmid 12019269 pmc doi 10.1074 jbc.M203915200 ref ref name entrez cite web title Entrez Gene NLRP12 NLR family, pyrin domain containing 12 url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 91662 accessdate ref The PBB Summary template is automatically maintained by Protein Box Bot. See Template PBB Controls to Stop updates. PBB Summary section title summary text NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP12, have an N terminal pyrin MEFV MIM 608107 domain PYD , followed by a NACHT domain, a NACHT associated domain NAD , and a C terminal leucine rich repeat LRR region. The long NALP, NALP1 MIM 606636 , also has a C terminal extension containing a function to find domain FIIND and a caspase recruitment domain CARD . NALPs are implicated in the activation of proinflammatory caspases e.g., CASP1 MIM 147678 via their involvement in multiprotein complexes called inflammasomes Tschopp et al., 2003 . supplied by OMIM ref name entrez References reflist Further reading refbegin 2 PBB Further reading citations cite journal author Shami PJ, Kanai N, Wang LY, et al. title Identification and characterization of a novel gene that i ... more details
PBB geneid 147945 NACHT, LRR and PYD domains containing protein 4 is a protein that in humans is encoded by the NLRP4 gene . ref name pmid12563287 cite journal author Tschopp J, Martinon F, Burns K title NALPs a novel protein family involved in inflammation journal Nat Rev Mol Cell Biol volume 4 issue 2 pages 95 104 year 2003 month Feb pmid 12563287 pmc doi 10.1038 nrm1019 ref ref name pmid12019269 cite journal author Wang L, Manji GA, Grenier JM, Al Garawi A, Merriam S, Lora JM, Geddes BJ, Briskin M, DiStefano PS, Bertin J title PYPAF7, a novel PYRIN containing Apaf1 like protein that regulates activation of NF kappa B and caspase 1 dependent cytokine processing journal J Biol Chem volume 277 issue 33 pages 29874 80 year 2002 month Aug pmid 12019269 pmc doi 10.1074 jbc.M203915200 ref ref name entrez cite web title Entrez Gene NLRP4 NLR family, pyrin domain containing 4 url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 147945 accessdate ref The PBB Summary template is automatically maintained by Protein Box Bot. See Template PBB Controls to Stop updates. PBB Summary section title summary text NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP4, have an N terminal pyrin MEFV MIM 608107 domain PYD , followed by a NACHT domain, a NACHT associated domain NAD , and a C terminal leucine rich repeat LRR region. The long NALP, NALP1 MIM 606636 , also has a C terminal extension containing a function to find domain FIIND and a caspase recruitment domain CARD . NALPs are implicated in the activation of proinflammatory caspases e.g., CASP1 MIM 147678 via their involvement in multiprotein complexes called inflammasomes Tschopp et al., 2003 . supplied by OMIM ref name entrez References reflist Further reading refbegin 2 PBB Further reading citations cite journal author Gerhard DS title The Status, Quality, and Expansion of the NIH Full Length cDNA Project The Mammalian ... more details
PBB geneid 29108 Apoptosis associated speck like protein containing a CARD or ASC is a protein that in humans is encoded by the PYCARD gene . ref name entrez cite web title Entrez Gene PYCARD PYD and CARD domain containing url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 29108 accessdate 18 September 2010 ref This gene encodes an adaptor protein that is composed of two protein protein interaction domains a N terminus N terminal PYRIN PAAD DAPIN domain PYD and a C terminus C terminal caspase recruitment domain CARD domain CARD . The PYD and CARD domains are members of the six helix bundle death domain fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptosis apoptotic signaling pathways via the activation of caspase . In normal cells, this protein is localized to the cytoplasm however, in cells undergoing apoptosis, it forms ball like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. ref name entrez cite web title Entrez Gene PYCARD PYD and CARD domain containing url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 29108 accessdate ref Interactions PYCARD has been shown to Protein protein interaction interact with MEFV . ref name pmid11498534 cite journal last Richards first N authorlink coauthors Schaner P, Diaz A, Stuckey J, Shelden E, Wadhwa A, Gumucio D L year 2001 month October title Interaction between pyrin and the apoptotic speck protein ASC modulates ASC induced apoptosis journal J. Biol. Chem. volume 276 issue 42 pages 39320 9 publisher location United States issn 0021 9258 pmid 11498534 doi 10.1074 jbc.M104730200 bibcode oclc id url language format accessdate laysummary laysource laydate quote ref References Reflist Further reading Refbegin 2 PBB Further reading citations cite journal author Masumoto J, Taniguchi S, Ayukawa K, et al. title ASC, a novel 22 kDa protein, aggregates ... more details
align center MEFV align center 1 5 1 7 align center Libya, Morocco, Tunisia Glycogen storage ... Iran Familial Mediterranean fever align center Autosomal recessive align center MEFV align center ... more details
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