External Ids for MEFV Gene
Previous HGNC Symbols for MEFV Gene
Previous GeneCards Identifiers for MEFV Gene
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]
GeneCards Summary for MEFV Gene
MEFV (Mediterranean Fever) is a Protein Coding gene. Diseases associated with MEFV include intermittent hydrarthrosis and familial mediterranean fever, ar. Among its related pathways are Immune System and Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways. GO annotations related to this gene include actin binding. An important paralog of this gene is RFPL4A.
UniProtKB/Swiss-Prot for MEFV Gene
Involved in innate immunity and the inflammatory response. Interacts with several components of the inflammasome complex, a large oligomeric structure which recruits and activates CASP1 and ultimately induces maturation of cytokines such as IL1B. However, the exact role of MEFV in the inflammatory pathway is uncertain as contradictory effects on IL1B processing have been reported in different experimental systems. Has been shown to activate IL1B production (PubMed:16037825). Has also been shown to inhibit IL1B production (PubMed:16785446, PubMed:17431422). Also required for PSTPIP1-induced PYCARD oligomerization and for formation of pyroptosomes, large supramolecular structures composed of oligomerized PYCARD dimers which form prior to inflammatory apoptosis. Can reduce PYCARD-induced apoptosis. Recruits PSTPIP1 to pyroptosomes, and required for PSTPIP1 oligomerization.