MEFV [SEP] chromosome
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 base pair 3,292,027 to 3,306,626.
Related conditions.
mutations, one from each parent is the threshold for a genetic diagnosis of FMF. However, most individuals who comply with the genetic diagnosis of FMF remain asymptomatic or undiagnosed. Whether this is due to modifier genes or environmental factors remains to be established.
Pathophysiology.
Virtually all cases are due to a mutation in the "Mediterranean Fever (MEFV)" gene on the sixteenth chromosome, which codes for a protein called "pyrin" or "marenostrin". Various mutations of this gene lead to FMF, although some