Sequence in raw or FASTA format:
MEFV Mediterranean fever [Homo sapiens (human)]
|Entrez Gene ID||4210|
|Full Name||Mediterranean fever|
|Synonyms||FMF, MEF, TRIM20|
|General protein information||
|Organism||Homo sapiens (human)|
|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].|
Familial Mediterranean fever, AR, 249100 (3); Familial
|hsa04621||NOD-like receptor signaling pathway|
|REACT_6802||Innate Immune System|
|REACT_75913||Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways|
|REACT_75808||The NLRP3 inflammasome|
|Homo sapiens (human)||MEFV||NP_000234.1|
|Pan troglodytes (chimpanzee)||MEFV||XP_523280.3|
|Macaca mulatta (Rhesus monkey)||MEFV||XP_001092338.1|
|Canis lupus familiaris (dog)||MEFV||XP_547161.4|
|Bos taurus (cattle)||LOC529195||XP_002697924.3|
|Mus musculus (house mouse)||Mefv||NP_001155263.1|
|Rattus norvegicus (Norway rat)||Mefv||NP_113822.1|
|GO:0032691||negative regulation of interleukin-1 beta production||IMP|
|GO:0032695||negative regulation of interleukin-12 production||IMP|
|GO:0035872||nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway||TAS|
|GO:0045087||innate immune response||TAS|
|GO:0050728||negative regulation of inflammatory response||IMP|
|GO:0071641||negative regulation of macrophage inflammatory protein 1 alpha production||IMP|
|GO:2001056||positive regulation of cysteine-type endopeptidase activity||IDA|
|GO:0005875||microtubule associated complex||IDA|
|GO:0008270||zinc ion binding||NAS|
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.
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