MTHFR (methylenetetrahydrofolate reductase) is an enzyme essential for converting folate into its active usable form, 5-methyltetrahydrofolate. This active form of folate is crucial for various biochemical processes, including DNA synthesis and repair, and the methylation cycle. The MTHFR gene provides instructions for making this enzyme. Genetic variations, or polymorphisms, within the MTHFR gene can influence the enzyme's activity, potentially affecting an individual's ability to metabolize folate efficiently. These variations are inherited and stable throughout a person's life.
MTHFR genotype
Folate and homocysteine metabolism.