Basic information of MEFV :
| Official Symbol of Gene | MEFV |
| Species | Homo sapiens |
| Entrez Gene ID | 6998 |
| 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 | Gene mutations |
| refSNP ID | M694V |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | Turkish population |
| Sample Size | 270 MS cases and 303 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 23297013 |
| Year | 2013 |
| Title | Association of missense mutations of Mediterranean fever (MEFV) gene with multiple sclerosis in Turkish population |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | There were statistically significant differences of the MEFV gene mutation carrier rates and allele frequencies between MS patients and healthy controls |
| Mechanism/Pathway | Mediterranean fever (MEFV) gene has already been identified as being responsible for FMF. |
