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MEFV Mediterranean fever [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000243 Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $899.00 20
NM_001198536 Homo sapiens Mediterranean fever (MEFV), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006720879 PREDICTED: Homo sapiens Mediterranean fever (MEFV), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $899.00 20

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Gene Symbol MEFV
Entrez Gene ID 4210
Full Name Mediterranean fever
Synonyms FMF, MEF, TRIM20
General protein information
Preferred Names
pyrin
Names
pyrin
marenostrin
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

16

16p13.3

Summary This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008].
Disorder

MIM: 608107

Familial Mediterranean fever, AR, 249100 (3); Familial

mRNA Protein Product Sequence Price Select
NM_000243, 188219545 NP_000234, 4557743 pyrin isoform 1 ORF Sequence $750.00
NM_001198536, 309384275 NP_001185465, 309384276 pyrin isoform 2 ORF Sequence $550.00
XM_006720879, 578828074 XP_006720942, 578828075 pyrin isoform X1 ORF Sequence $750.00
KEGG
hsa04621NOD-like receptor signaling pathway
WikiPathways
WP1433NOD pathway
Reactome
REACT_6802Innate Immune System
REACT_6900Immune System
REACT_75913Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
REACT_75900Inflammasomes
REACT_75808The NLRP3 inflammasome
Homo sapiens (human)MEFVNP_000234.1
Pan troglodytes (chimpanzee)MEFVXP_523280.3
Macaca mulatta (Rhesus monkey)MEFVXP_001092338.1
Canis lupus familiaris (dog)MEFVXP_547161.4
Bos taurus (cattle)LOC529195XP_002697924.3
Mus musculus (house mouse)MefvNP_001155263.1
Rattus norvegicus (Norway rat)MefvNP_113822.1
Process
IDNameEvidence
GO:0006954inflammatory responseIDA
GO:0032691negative regulation of interleukin-1 beta productionIMP
GO:0032695negative regulation of interleukin-12 productionIMP
GO:0035872nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayTAS
GO:0045087innate immune responseTAS
GO:0050728negative regulation of inflammatory responseIMP
GO:0071641negative regulation of macrophage inflammatory protein 1 alpha productionIMP
GO:2001056positive regulation of cysteine-type endopeptidase activityIDA
Component
IDNameEvidence
GO:0001726ruffleIEA
GO:0005634nucleusIDA
GO:0005829cytosolTAS
GO:0005874microtubuleIEA
GO:0005875microtubule associated complexIDA
GO:0030027lamellipodiumIEA
Function
IDNameEvidence
GO:0003779actin bindingIDA
GO:0008270zinc ion bindingNAS
GeneCards MEFV
UniProt O15553, D2DTW2
Vega OTTHUMG00000129324
MIM 608107
Ensembl ENSG00000103313
HGNC 6998
HPRD 02012

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the MEFV gene?

The MEFV gene provides instructions for making a protein called pyrin (also known as marenostrin). Although pyrin's function is not fully understood, it likely assists in keeping the inflammation process under control. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this has been accomplished, the body stops the inflammatory response to prevent damage to its own cells and tissues.

Pyrin is produced in certain white blood cells (neutrophils, eosinophils, and monocytes) that play a role in inflammation and in fighting infection. 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. Pyrin also interacts with other molecules involved in fighting infection and in the inflammatory response. Research indicates that pyrin helps regulate inflammation by interacting with the cytoskeleton, the structural framework that helps to define the shape, size, and movement of a cell.

Interactant

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