NP_000234.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
50,837 Da
NCBI Official Full Name
pyrin isoform 1
NCBI Official Synonym Full Names
Mediterranean fever
NCBI Protein Information
pyrin
UniProt Protein Name
Pyrin
UniProt Synonym Protein Names
Marenostrin
UniProt Synonym Gene Names
UniProt Entry Name
MEFV_HUMAN
NCBI Summary for MEFV
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]
UniProt Comments for MEFV
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
Research Articles on MEFV
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Products associated with MEFV blocking peptide
Pathways associated with MEFV blocking peptide
Diseases associated with MEFV blocking peptide
Organs/Tissues associated with MEFV blocking peptide
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