Gene MTHFD1L
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Also known as
methylenetetrahydrofolate dehydrogenase 1-like, mitochondrial C1-THF synthase, MTHFD1LOverview
MTHFD1L (Methylenetetrahydrofolate Dehydrogenase 1 Like) encodes a mitochondrial enzyme that catalyzes the final step in the production of formate from one-carbon units in folate metabolism. This enzyme generates formate that is exported to the cytoplasm for use in purine synthesis, thymidylate synthesis, and methionine regeneration. It is essential for mitochondrial folate-dependent one-carbon metabolism.Variants in MTHFD1L have been associated with neural tube defects, particularly when combined with low folate status. The gene is also implicated in coronary artery disease risk through its effects on homocysteine metabolism. MTHFD1L polymorphisms may influence response to folate supplementation and antifolate medications.
Understanding your MTHFD1L genetic status provides insights into mitochondrial folate metabolism. This information is relevant for understanding neural tube defect risk in pregnancy, homocysteine-related cardiovascular risk, and optimal folate nutrition strategies.