MEFV, Blocking Peptide

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

Lyophilized powder

Add 100ul of sterile PBS. Final peptide concentration is 1 mg/ml in PBS. For longer periods of storage, store at -20 degree C. Avoid repeat freeze-thaw cycles.

Small volumes of MEFV blocking peptide 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 is a synthetic peptide designed for use in combination with anti-MEFV antibody made

Target Description: 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.

Peptide

Western Blot (WB)

86kDa

MEFV innate immuity regulator, pyrin

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; 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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