Home Details
| Official Symbol of Gene | MTHFR |
| Species | Homo sapiens |
| Entrez Gene ID | 4524 |
| Official Full Name | methylenetetrahydrofolate reductase |
| Also known as | N/A |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000177000 MIM:607093; AllianceGenome:HGNC:7436 |
| Map Location | 1p36.22 |
| Variation Type | missense |
| refSNP ID | C677T |
| Detected Sample | blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | Tunisian |
| Sample Size | 80 multiple sclerosis patients and 200 healthy controls |
| Pubmed ID | 23523621 |
| Year | 2013 |
| Title | Association of methylenetetrahydrofolate reductase A1298C polymorphism but not of C677T with multiple sclerosis in Tunisian patients |
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | No significant differences were found in the frequency of the MTHFR C677T polymorphism between MS patients and healthy controls. |
| Mechanism/Pathway | Methylenetetrahydrofolate reductase (MTHFR) is a folate dependent enzyme which regulates a key metabolic intersection in the folate pathway. |

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