MEFV (Mediterranean fever) is a human gene that provides instructions for making a protein called pyrin (also known as marenostrin). Pyrin is produced in certain white blood cells (neutrophils, eosinophils and monocytes) that play a role in inflammation and in fighting infection.

2000年8月8日 · Familial Mediterranean fever (FMF) is divided into two phenotypes: type 1 and type 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis and meningitis.

2024年12月25日 · MEFV (MEFV Innate Immunity Regulator, Pyrin) is a Protein Coding gene. Diseases associated with MEFV include Familial Mediterranean Fever and Neutrophilic Dermatosis, Acute Febrile. Among its related pathways are Inflammasomes and Infectious disease. Gene Ontology (GO) annotations related to this gene include actin binding.

The MEFV gene provides instructions for making a protein called pyrin (also known as marenostrin). Learn about this gene and related health conditions.

Familial Mediterranean fever (FMF) (OMIM #249100) is the most common hereditary autoinflammatory disease in the world. FMF is caused by gain of function mutations of MEFV gene which encodes an immune regulatory protein, pyrin.

2011年7月21日 · Familial Mediterranean fever (FMF) is a hereditary recurrent fever associated with mutations in the gene MEFV encoding pyrin. It is expressed mainly in neutrophils...

MEFV gene polymorphisms and TNFRSF1A mutation are susceptibility and modifier genes in Inflammatory myopathy with abundant macrophages (IMAM). Our study is reflecting the mutational heterogeneity of MEFV and summarize mutational spectrum of Turkey's geographical regions and overall Turkey.

Mediterranean fever [Source:HGNC Symbol;Acc: 6998] FMF, MEF, TRIM20. Chromosome 16: 3,292,028-3,306,627 reverse strand. GRCh37:CM000678.1. This gene has 14 transcripts (splice variants), 7 paralogues and is associated with 7 phenotypes. Show transcript table.

2023年1月23日 · The MEFV gene is regulated by nonsense-mediated decay, and different isoforms of MEFV transcripts have different cellular localizations and functions in inflammation. Pyrin expression could be upregulated by various cytokines including IFN-γ, TNF-α, and IL-10 .

The MEFV gene encodes pyrin, which functions as an innate immune sensor that can trigger formation of an inflammasome, allowing the production of inflammatory mediators during infection (summary by Masters et al., 2016).