Basic information of MAVS :
| Official Symbol of Gene | MAVS |
| Species | Homo sapiens |
| Entrez Gene ID | 57506 |
| Official Full Name | mitochondrial antiviral signaling protein |
| Also known as | IPS1; VISA; IPS-1; CARDIF |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000088888 MIM:609676; AllianceGenome:HGNC:29233 |
| Map Location | 20p13 |
| Variation Type | SNP |
| refSNP ID | rs4815617, rs7262903, rs17857295, rs45437096, rs16989000 |
Sample information of multiple sclerosis:
| Detected Sample | blood |
| Sample Detail | N/A |
| Detected Method | TaqMan assays, restriction fragment length polymorphism (RFLP) or high resolution melting (HRM) analysis |
| Disease | MS |
| Disease subtype | RRMS, PPMS, SPMS, CIS |
| Population | Germany |
| Sample Size | 716 MS patients / 706 healthy controls |
Literature information of multiple sclerosis :
| Pubmed ID | 25288302 |
| Year | 2014 |
| Title | Analysis of polymorphisms in RIG-I-like receptor genes in German multiple sclerosis patients |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | Evaluation of single nucleotide polymorphisms (SNPs) in the gene did not reveal significant single-SNP associations with MS risk. |
| Mechanism/Pathway | Increased activation of RLR genes has been demonstrated in peripheral blood cells of MS patients.It was speculated that genetic alterations in the RIG-I-like receptor signaling pathway may lead to inadequate immune responses and increase the susceptibility for autoimmune disorders. |
