Gene MTHFS
Back to Curriculum
Also known as
5,10-methenyltetrahydrofolate synthetase, methenyl-THF synthetase, folate binding proteinOverview
MTHFS (5,10-Methenyltetrahydrofolate Synthetase) encodes an enzyme that converts 5-formyltetrahydrofolate (folinic acid) to 5,10-methenyltetrahydrofolate, a key intermediate in folate one-carbon metabolism. This reaction releases the folate from its storage form for active use in cellular processes. MTHFS also has high affinity for binding folate and may regulate folate availability.Genetic variants in MTHFS can affect enzyme activity and folate metabolism efficiency. Altered MTHFS function may influence neural tube defect risk, cardiovascular disease through homocysteine effects, and potentially cancer risk. The enzyme is particularly important when folinic acid is used therapeutically as rescue therapy after methotrexate treatment.
Understanding your MTHFS genetic status provides insights into folate activation and utilization. This information is relevant for understanding folate supplementation needs, pregnancy-related health, and potentially response to folinic acid therapy in cancer treatment protocols.