MEFV, Polyclonal Antibody

FMF; MEF; TRIM20

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

Affinity purification

Store at -20 degree C. Avoid freeze / thaw cycles.

Small volumes of anti-MEFV antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome.

Polyclonal

Western Blot (WB)

WB: 1:500 - 1:2000

Calculated MW: 86kDa
Molecular Weight: 781

Mediterranean fever

pyrin

Pyrin

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MEFV_HUMAN

This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]

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: autophagic vacuole; cytoplasm; cytoplasmic vesicle; cytosol; lamellipodium; microtubule; microtubule associated complex; nucleus; ruffle

Molecular Function: actin binding; protein binding; zinc ion binding

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

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

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