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 to assemble themselves into structures called inflammasomes, which are involved in the process of inflammation. 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.
Other Names
FMF; marenostrin; Mediterranean fever; MEF; MEFV_HUMAN; MRST; pyrin; TRIM20
Related Genetics Topics
Identifiers
- NCBI Gene: 4210
- OMIM: 608107
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
