The disease-causing gene (MEFV) encodes for a protein called pyrin also known as
marenostrin (Marenostrum: Mediterranean).
Familial Mediterranean fever (OMIM 249100) is transmitted by autosomal recessive inheritance and, in its most frequent and classic phenotype, is characterized by recurrent acute fever episodes, polyserositis, arthritis, and erysipelas-like erythema [15]: it is due to the presence of mutations (among the 200 identified to date) in the MEFV (from MEditerranean FeVer) gene which encodes the protein pyrin, also known by its Europeanname "
marenostrin" [16, 17](Table 1).
MEFV provides instructions for the cellular production of a protein named pyrin, also known as
marenostrin. (5,6) When nonsense or missense mutations in the MEFV gene occur, pyrin becomes either mutated or not produced.
(1,2) Pyrin or
marenostrin are products of the Mediterranean fever (MEFV) gene, a regulatory protein that is mainly expressed in neutrophils.