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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2018/03/01 19:16:19」(JST)

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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 cells (neutrophils, eosinophils and monocytes) 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 at position 13.3, from base pair 3,292,027 to 3,306,626.^[5]

Related conditions

More than 80 MEFV mutations 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 building blocks (amino acids) used to make pyrin. The most common mutation replaces the amino acid methionine with the amino acid valine at protein position 694 (written as Met694Val or M694V). Among people with familial Mediterranean fever, this particular mutation is also associated with an increased risk of developing amyloidosis, a complication in which abnormal protein deposits can lead to kidney failure. Some evidence suggests that another gene, called SAA1, can further modify the risk of developing amyloidosis among people with the M694V mutation.

MEFV mutations lead to reduced amounts of pyrin or a malformed pyrin protein that cannot function properly. As a result, pyrin cannot perform its presumed role in controlling inflammation, leading to an inappropriate or prolonged inflammatory response. Fever and inflammation in the abdomen, chest, joints, or skin are signs of familial Mediterranean fever.

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000103313 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022534 - Ensembl, May 2017
^ "Human PubMed Reference:".
^ "Mouse PubMed Reference:".
^ "MEFV - Mediterranean fever". US National Library of Medicine, National Institutes of Health, Department of Health & Human Services. 2011-04-07. Retrieved 2011-04-14.
^ Dogan H, Akdemir F, Tasdemir S, Atis O, Diyarbakir E, Yildirim R, Emet M, Ikbal M (2014). "A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever". BMC Medical Genetics. 15 (1): 74. doi:10.1186/1471-2350-15-74. PMC 4094690 . PMID 24980720.

External links

marenostrin at the US National Library of Medicine Medical Subject Headings (MeSH)

By: Dr. Rozan Ehab Ahmed

UpToDate Contents

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1. 家族性地中海熱の臨床症状および診断 clinical manifestations and diagnosis of familial mediterranean fever
2. 家族性地中海熱の病態生理 pathophysiology of familial mediterranean fever
3. ベーチェット症候群の病因 pathogenesis of behcets syndrome
4. 周期性発熱症候群およびその他の自己炎症性疾患：概要 periodic fever syndromes and other autoinflammatory diseases an overview
5. 単一遺伝子性疾患の非メンデル遺伝のパターン non mendelian inheritance patterns of monogenic diseases

English Journal

Clinical and Genetic Features of Patients With TNFRSF1A Variants in Japan: Findings of a Nationwide Survey.

Ueda N1, Ida H2, Washio M3, Miyahara H4, Tokunaga S5, Tanaka F6, Takahashi H7, Kusuhara K8, Ohmura K9, Nakayama M10, Ohara O10, Nishikomori R9, Minota S11, Takei S12, Fujii T9, Ishigatsubo Y13, Tsukamoto H1, Tahira T1, Horiuchi T14.
Arthritis & rheumatology (Hoboken, N.J.).Arthritis Rheumatol.2016 Nov;68(11):2760-2771. doi: 10.1002/art.39793.
OBJECTIVE: To elucidate the clinical and genetic features of patients with TNFRSF1A variants in Japan using data obtained from a nationwide survey conducted by the Ministry of Health, Labor, and Welfare of Japan study group for tumor necrosis factor receptor-associated periodic syndrome (TRAPS).METH
PMID 27332769

Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation.

Marzano AV1, Borghi A2, Meroni PL3, Cugno M4.
The British journal of dermatology.Br J Dermatol.2016 Nov;175(5):882-891. doi: 10.1111/bjd.14691. Epub 2016 Aug 23.
Pyoderma gangrenosum is a rare inflammatory neutrophilic dermatosis manifesting as painful ulcers with violaceous, undermined borders on the lower extremities. It may occur in the context of classic syndromes like PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) and SAPHO (synovitis, acne, p
PMID 27106250

Novel MEFV variant Q311H in an incomplete Behçet's disease patient with recurrent epididymitis.

Yamashita C1, Otsuka A2, Dainichi T1, Kabashima K3.
Journal of the European Academy of Dermatology and Venereology : JEADV.J Eur Acad Dermatol Venereol.2016 Nov;30(11):e173-e174. doi: 10.1111/jdv.13481. Epub 2015 Nov 23.
PMID 26593126

Japanese Journal

Usefulness of Small Intestinal Endoscopy in a Case of Adult-onset Familial Mediterranean Fever Associated with Jejunoileitis

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Internal Medicine 54(11), 1343-1347, 2015
… A genetic examination disclosed compound heterozygous MEFV mutations (E84K, P369S), and familial Mediterranean fever was diagnosed. …
NAID 130005072944

Protracted Febrile Myalgia Syndrome in a Japanese Patient with Fasciitis Detected on MRI

Fujikawa Keita,Migita Kiyoshi,Tsukada Toshiaki,Kawakami Atsushi,Eguchi Katsumi
Internal Medicine 53(24), 2817-2819, 2014-12-15
… An MEFV gene analysis revealed the patient to be homozygous for E148Q and compound heterozygous for P369S-R408Q. …
NAID 120005526610

Mediterranean fever (MEFV) Variant P369S/R408Q in a Patient with Entero-Behçet's Disease who Successfully Responded to Treatment with Colchicine

Fujikawa Keita,Migita Kiyoshi,Nagasato Akio,Tsukada Toshiaki,Kawakami Atsushi,Eguchi Katsumi
Internal Medicine 53(20), 2381-2384, 2014-10-15
… An Mediterranean fever (MEFV) gene analysis revealed the compound heterozygous P369S-R408Q variant. … In Behçet's disease patients with MEFV variants, the use of colchicine should therefore be considered in such patients as well as immunosuppressive therapy. …
NAID 120005517842

Related Pictures

FMF-associated mutations in the MEFV gene MEFV - Wikipedia, the free encyclopedia www.biomedcentral.com - Figure mefv Mediterranean Fever. Causes, symptoms Positional cloning of MEFV, the FMF gene Inc: Missense mutations in the MEFV gene guide requests for MEFV mutation analysis

★リンクテーブル★

リンク元	「最大呼気フロー・ボリューム曲線」
拡張検索	「MEFVC」
関連記事	「MEF」「ME」

「最大呼気フロー・ボリューム曲線」

MEFV
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2WL1, 2MPC, 4CG4
Identifiers
Aliases	MEFV, FMF, MEF, TRIM20, Mediterranean fever, pyrin innate immunity regulator
External IDs	OMIM: 608107 MGI: 1859396 HomoloGene: 32441 GeneCards: MEFV
Gene location (Human)
Chr.	Chromosome 16 (human)
End	3,256,627 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	3,718,124 bp
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• zinc ion binding; • metal ion binding; • protein binding; • actin binding; • identical protein binding;
Cellular component	• cytoplasm; • cytosol; • cell projection; • ruffle; • intracellular; • microtubule associated complex; • autophagosome; • microtubule; • cytoskeleton; • cytoplasmic vesicle; • nucleus; • lamellipodium;
Biological process	• positive regulation of cysteine-type endopeptidase activity; • negative regulation of interleukin-1 beta production; • response to interferon-gamma; • positive regulation of autophagy; • negative regulation of macrophage inflammatory protein 1 alpha production; • immune system process; • negative regulation of NLRP3 inflammasome complex assembly; • inflammatory response; • negative regulation of inflammatory response; • negative regulation of cytokine production involved in inflammatory response; • negative regulation of interleukin-12 production; • innate immune response;
	Sources:Amigo / QuickGO
Orthologs
	4210
	54483
	ENSG00000103313
	ENSMUSG00000022534
	O15553
	Q9JJ26
	NM_001198536; NM_000243
	NM_001161790; NM_001161791; NM_019453
	NP_000234; NP_001185465
	NP_001155262; NP_001155263; NP_062326
	Wikidata
View/Edit Human	View/Edit Mouse