DISEASES

Disease-gene associations mined from literature

Literature associating MEFV and familial visceral amyloidosis

MEFV [ENSP00000219596]

Mediterranean fever; Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma. Organizes autophagic machinery by serving as a platform for the assembly of ULK1, Beclin 1/BECN1, ATG16L1, and ATG8 family members and recognizes specific autophagy targets, thus coordinating target recognition with assembly of the autophagic apparatus and initiation of autophagy. Acts as an autophagy receptor for the degradation of several inflammasome components, including CASP1, NLRP1 and NLRP3, hence preventing excessive IL1B- and IL18- mediated inflammation. However, it may also have a positive effect in the inflammatory pathway. In different experimental systems, it has been shown to activate IL1B production. It has also been shown to be required for PSTPIP1-induced PYCARD oligomerization and for formation of inflammasomes. Recruits PSTPIP1 to inflammasomes, and is required for PSTPIP1 oligomerization; Pyrin domain containing

Synonyms:  MEFV,  D2DTW1,  E3P8H6,  F5GZV9,  F5H2E5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM