MEFV
Sign in to saveAlso known as FMF, MEF, TRIM20, Mediterranean fever, MEFV, pyrin innate immunity regulator, MEFV innate immuity regulator, pyrin, PAAND
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.
Gene data
MEFV- Name
- MEFV innate immunity regulator, pyrin
- Type
- protein-coding
- Aliases
- FMF, MEF, PAAND, TRIM20
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].
via MyGene.info
Gene · Ensembl
MEFV innate immunity regulator, pyrin
- Symbol
- MEFV
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 16:3,240,392-3,256,954
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 32441
- exact match
- identifiers.org/ncbigene/4210
- genomic end
- 3256633
- genomic start
- 3242027
- cytogenetic location
- 16p13.3
Sources (7)
via Wikidata · CC0
~3 min read
Article
5 sectionsContents
- Related conditions
- See also
- References
- Further reading
- External links
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.