The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.
Aliases: MTHFR
Entrez GeneID: 4524
Swissprot : P42898
WB Predicted band size: 75kDa
Host/Isotype: Mouse IgG1
Species Reactivity: Human,Rat
Immunogen : Purified recombinant fragment of human MTHFR expressed in E. Coli.