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Basic information of MTHFR :

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

Sample information of multiple sclerosis:

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

Literature information of multiple sclerosis :

Pubmed ID 23523621
Year 2013
Title Association of methylenetetrahydrofolate reductase A1298C polymorphism but not of C677T with multiple sclerosis in Tunisian patients

Results of multiple sclerosis :

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.