MEFV

MEFV (Mediterranean fever) is a is_associated_with::human is_associated_with::gene that provides instructions for making a is_associated_with::protein called is_associated_with::pyrin (also known as marenostrin). Pyrin is produced in certain is_associated_with::white blood cells (is_associated_with::neutrophils, is_associated_with::eosinophils and is_associated_with::monocytes) that play a role in is_associated_with::inflammation and in fighting is_associated_with::infection. Inside these white blood cells, pyrin is found with the is_associated_with::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 is_associated_with::base pair 3,292,027 to 3,306,626.

Related conditions
More than 80 MEFV is_associated_with::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 (is_associated_with::amino acids) used to make pyrin. The most common mutation replaces the amino acid is_associated_with::methionine with the amino acid is_associated_with::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 is_associated_with::amyloidosis, a complication in which abnormal protein deposits can lead to is_associated_with::kidney failure. Some evidence suggests that another gene, called is_associated_with::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.