MEFV (Mediterranean fever)

Polyclonal antibody produced in rabbits immunized with a synthetic peptide corresponding to a region of Human MEFV.

Lyophilized powder

1:62500Western Blot: Antibody

TPSDHLLSTLEELVPYDFEKFKFKLQNTSVQKEHSRIPRSQIQRARPVKM

Probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeleton organization.

Isoform 1: Cytoplasm cytoskeleton. Note=Associated with microtubules and with the filamentous actin of perinuclear filaments and peripheral lamellar ruffles.

Expressed in peripheral blood leukocytes particularly in mature granulocytes and to a lesser extent in monocytes but not in lymphocytes. Detected in spleen lung and muscle probably as a result of leucocyte infiltration in these tissues. Not expressed in thymus prostate testis ovary small intestine colon heart brain placenta liver kidney pancreas. Expression detected in several myeloid leukemic colon cancer and prostate cancer cell lines. Developmental Stage: First detected in bone marrow promyelocytes. Expression increases throughout myelocyte differentiation and peaks in the mature myelomonocytic cells.

Defects in MEFV are the cause of familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]. 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.

Contains 1 B box-type zinc finger.

Contains 1 DAPIN domain. Summary: MEFV was identified as the gene that when mutated causes Mediterranean fever a hereditary periodic fever syndrome. MEFV is expressed in granulocytes and myeloid bone marrow precursors. Giaglis. S. . et al. . (2006) Dig. Dis. Sci. 51 (4). 687-692.