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 |
| Variation Type | mutation |
| refSNP ID | K695R |
Sample information of multiple sclerosis:
| Detected Sample | blood |
| Sample Detail | blood cells |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | PPMS, RRMS |
| Population | North-African Jewish， Iraqi Jewish， Ashkenazi |
| Sample Size | 144 MS patients including 123 RR-MS patients, and 21 PP patients |
Literature information of multiple sclerosis :
| Pubmed ID | 12700594 |
| Year | 2003 |
| Title | Common mutations in the familial Mediterranean fever gene associate with rapid progression to disability in non-Ashkenazi Jewish multiple sclerosis patients |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | non-Asheknazi MS patients carrying one mutated MEFV gene, particularly M694V, expressed rapid progression to disability. |
| Mechanism/Pathway | The expressed mutation may increase inflammatory damage inflicted by autoimmune responses. |
