DISEASES

Disease-gene associations mined from literature

Literature associating MAVS and Chilblain lupus

MAVS [ENSP00000401980]

Mitochondrial antiviral-signaling protein; Required for innate immune defense against viruses (PubMed:16125763, PubMed:16127453, PubMed:16153868, PubMed:16177806, PubMed:19631370, PubMed:20451243, PubMed:23087404). Acts downstream of DHX33, 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) (PubMed:16125763, PubMed:16127453, PubMed:16153868, PubMed:16177806, PubMed:19631370, PubMed:20451243, PubMed:23087404, PubMed:25636800). 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 . ECO:0000269|PubMed:16127453, ECO:0000269|PubMed:16153868, ECO:0000269|PubMed:16177806, ECO:0000269|PubMed:19631370, ECO:0000269|PubMed:20451243, ECO:0000269|PubMed:23087404,

Synonyms:  MAVS,  Q7Z434,  Q7Z434p,  hQ7Z434,  2MS7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM