Disease-gene associations mined from literature

Literature associating MAVS and Aicardi-Goutieres syndrome

MAVS [ENSP00000401980]

Interferon beta promoter stimulator protein 1; Required for innate immune defense against viruses. Acts downstream of DDX58/RIG-I and IFIH1/MDA5, which detect intracellular dsRNA produced during viral replication, to coordinate pathways leading to the activation of NF-kappa-B, IRF3 and IRF7, and to the subsequent induction of antiviral cytokines such as IFN-beta and RANTES (CCL5). Peroxisomal and mitochondrial MAVS act sequentially to create an antiviral cellular state. Upon viral infection, peroxisomal MAVS induces the rapid interferon- independent expression of defense factors that provide short-term protection, whereas mitochondrial MAVS activates an interferon- dependent signaling pathway with delayed kinetics, which amplifies and stabilizes the antiviral response. May activate the same pathways following detection of extracellular dsRNA by TLR3. May protect cells from apoptosis; Caspase recruitment domain containing

Synonyms:  MAVS,  M1P2Z0,  MAVS-001,  MAVS-201,  Q7Z434 ...

Linkouts:  STRING  Pharos  UniProt  OMIM