Basic information of MEFV :
| Official Symbol of Gene | MEFV |
| Species | Homo sapiens |
| Entrez Gene ID | 4210 |
| Official Full Name | MEFV innate immunity regulator, pyrin |
| Also known as | FMF; MEF; PAAND; TRIM20 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000103313 MIM:608107; AllianceGenome:HGNC:6998 |
| Map Location | 16p13.3 |
Sample information of multiple sclerosis:
| Detected Sample | Peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | N/A |
| Sample Size | Fifty-three MS patients and 66 healthy |
Literature information of multiple sclerosis :
| Pubmed ID | 20483145 |
| Year | 2010 |
| Title | Evaluation of common mutations in the Mediterranean fever gene in Multiple Sclerosis patients: Is it a susceptibility gene? |
Results of multiple sclerosis :
| Expression | up-regulation |
| Risk type | Disease risk |
| Result | The results of this study supported the hypothesis that MS patients with MEFV mutation seem to have the susceptibility to develop a more progressive disease. Moreover, these data suggest that MEFV mutations may increase the risk of MS development. |
| Mechanism/Pathway | Pyrin is predominantly expressed in polymorphonuclear leukocytes (PMNs) and cytokine-activated monocytes，Pyrin consists of four functional domains, a B-box zinc-finger domain, a coiled coil domain, a C-terminal B30.2 domain, and a 92-amino-acid N-terminal pyrin domain that is shared by a number of other proteins involved in apoptosis and inflammation |
