Mediterranean Fever (MEFV)

MEF; FMF; TRIM20; Pyrin; Marenostrin

SPN	U234
HGNC	6998
MGI	1859396
PubMed	19714479
RGD	61889
UniProt	O15553
Wiki	MEFV

MEFV is a human gene that provides instructions for making a protein called pyrin. Pyrin is produced in certain white blood cells 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.

Reference

"Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever."
Cell 90:797-807(1997) [PubMed] [Europe PMC] [Abstract]

"Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus."
Hum. Mol. Genet. 9:3001-3009(2000) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"A candidate gene for familial Mediterranean fever."
Nat. Genet. 17:25-31(1997) [PubMed] [Europe PMC] [Abstract]

"Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease."
Mutat. Res. 479:235-239(2001) [PubMed] [Europe PMC] [Abstract]

"The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators."
Blood 95:3223-3231(2000) [PubMed] [Europe PMC] [Abstract]

"Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin."
Blood 95:1451-1455(2000) [PubMed] [Europe PMC] [Abstract]

"The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments."
Blood 98:851-859(2001) [PubMed] [Europe PMC] [Abstract]

"Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis."
J. Biol. Chem. 276:39320-39329(2001) [PubMed] [Europe PMC] [Abstract]

"Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway."
Proc. Natl. Acad. Sci. U.S.A. 100:13501-13506(2003) [PubMed] [Europe PMC] [Abstract]

"Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever."
Arthritis Rheum. 46:2785-2793(2002) [PubMed] [Europe PMC] [Abstract]

"Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization."
Cell Death Differ. 13:236-249(2006) [PubMed] [Europe PMC] [Abstract]

"The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production."
Proc. Natl. Acad. Sci. U.S.A. 103:9982-9987(2006) [PubMed] [Europe PMC] [Abstract]

"The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing."
Cell Death Differ. 14:1457-1466(2007) [PubMed] [Europe PMC] [Abstract]

"Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants."
Mol. Cell 28:214-227(2007) [PubMed] [Europe PMC] [Abstract]

"The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment."
Blood 112:1794-1803(2008) [PubMed] [Europe PMC] [Abstract]

"Pyrin and ASC co-localize to cellular sites that are rich in polymerizing actin."
Exp. Biol. Med. (Maywood) 234:40-52(2009) [PubMed] [Europe PMC] [Abstract]

"Pyrin Modulates the Intracellular Distribution of PSTPIP1."
PLoS ONE 4:E6147-E6147(2009) [PubMed] [Europe PMC] [Abstract]

"The crystal structure of human pyrin b30.2 domain: implications for mutations associated with familial Mediterranean fever."
J. Mol. Biol. 394:226-236(2009) [PubMed] [Europe PMC] [Abstract]

"Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF)."
Hum. Mol. Genet. 7:1317-1325(1998) [PubMed] [Europe PMC] [Abstract]

"Pyrin/marenostrin mutations in familial Mediterranean fever."
QJM 91:603-606(1998) [PubMed] [Europe PMC] [Abstract]

"Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population."
Am. J. Hum. Genet. 64:949-962(1999) [PubMed] [Europe PMC] [Abstract]

"MEFV-Gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications."
Am. J. Hum. Genet. 65:88-97(1999) [PubMed] [Europe PMC] [Abstract]

"Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis."
Eur. J. Hum. Genet. 7:287-292(1999) [PubMed] [Europe PMC] [Abstract]

"MEFV mutations in Turkish patients suffering from familial Mediterranean fever."
Hum. Mutat. 15:118-119(2000) [PubMed] [Europe PMC] [Abstract]

"The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?"
Hum. Mutat. 15:385-386(2000) [PubMed] [Europe PMC] [Abstract]

"Familial Mediterranean fever in the 'Chuetas' of Mallorca: a question of Jewish origin or genetic heterogeneity."
Eur. J. Hum. Genet. 8:242-246(2000) [PubMed] [Europe PMC] [Abstract]

"Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever."
Am. J. Med. Genet. 92:241-246(2000) [PubMed] [Europe PMC] [Abstract]

"The genetic basis of autosomal dominant familial Mediterranean fever."
QJM 93:217-221(2000) [PubMed] [Europe PMC] [Abstract]

"The spectrum of familial mediterranean fever (FMF) mutations."
Eur. J. Hum. Genet. 9:473-483(2001) [PubMed] [Europe PMC] [Abstract]

"Is the Ala138Gly alteration of MEFV gene important for amyloidosis?"
Hum. Mutat. 17:71-71(2001) [PubMed] [Europe PMC] [Abstract]

"I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?"
Hum. Mutat. 20:148-150(2002) [PubMed] [Europe PMC] [Abstract]

"A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?"
Am. J. Med. Genet. A 124:67-73(2004) [PubMed] [Europe PMC] [Abstract]

"The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination 'hot-spot' at the MEFV locus."
Hum. Mutat. 23:399-399(2004) [PubMed] [Europe PMC] [Abstract]

"Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations."
Eur. J. Med. Genet. 48:412-420(2005) [PubMed] [Europe PMC] [Abstract]

"Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF)."
Biochem. Biophys. Res. Commun. 345:1326-1332(2006) [PubMed] [Europe PMC] [Abstract]

"Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey."
Gene 511:371-374(2012) [PubMed] [Europe PMC] [Abstract]

"MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease."
Ann. Rheum. Dis. 73:455-461(2014) [PubMed] [Europe PMC] [Abstract]

"Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V)."
Gene 546:195-199(2014) [PubMed] [Europe PMC] [Abstract]