MTHFR mutations[edit | edit source]
MTHFR A1298C is involved in converting 5-methylfolate (5MTHF) to tetrahydrofolate (THF), a reaction that produces one molecule of BH4. Mutations in this gene down regulate the methylation cycle and consequently, the production of BH4.
cofactor - A substance that acts with another substance to bring about certain effects. In biochemistry, a cofactor is a molecule that is necessary for a given biochemical reaction, but is not an enzyme or substrate of the reaction.