Gene MEFV
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Also known as
pyrin, marenostrin, familial Mediterranean fever gene, FMFOverview
MEFV (Mediterranean Fever) encodes pyrin, a protein expressed in neutrophils and monocytes that regulates inflammatory responses. Pyrin is part of the inflammasome complex and helps control IL-1β production, a key inflammatory cytokine. MEFV plays a critical role in innate immunity and inflammation regulation.Mutations in MEFV cause Familial Mediterranean Fever (FMF), an autoinflammatory disorder characterized by recurrent episodes of fever, abdominal pain, and joint inflammation. FMF is most common in populations from the Mediterranean region (Armenian, Turkish, Arabic, and Sephardic Jewish). The M694V and M680I mutations are among the most common pathogenic variants. Untreated FMF can lead to amyloidosis.
Understanding your MEFV genetic status provides insights into inflammasome regulation and autoinflammatory disease risk. This information is particularly relevant for individuals of Mediterranean ancestry and those with unexplained recurrent fevers or inflammatory episodes.