Mediterranean Fever (MEFV) Antibody – Mouse Monoclonal

pyrin: Probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeleton organization. Defects in MEFV are the cause of familial Mediterranean fever autosomal recessive (ARFMF). ARFMF is an inherited disorder characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. ARFMF is frequently complicated by amyloidosis, which leads to renal failure and can be prophylactically treated with colchicine. ARFMF primarily affects ancestral ethnic groups living around the Mediterranean basin: North African Jews, Armenians, Arabs and Turks. The disease is also distributed in other populations including Greeks, Cypriots, Italians and Spanish, although at a lower prevalence. Defects in MEFV are the cause of familial Mediterranean fever autosomal dominant (ADFMF). ADFMF is characterized by periodic fever, serosal inflammation and pain in the abdomen, chest or joints as seen also in the autosomal recessive form of the disease. It is associated with renal amyloidosis and characterized by colchicine unresponsiveness. 2 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 16p13.3

Cellular Component: ruffle; microtubule; microtubule associated complex; lamellipodium; nucleus; cytosol

Molecular Function: zinc ion binding; actin binding

Biological Process: negative regulation of interleukin-12 production; negative regulation of inflammatory response; innate immune response; negative regulation of interleukin-1 beta production; inflammatory response

Disease: Familial Mediterranean Fever; Familial Mediterranean Fever, Autosomal Dominant