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MTHFD1 encodes a trifunctional enzyme that catalyzes sequential reactions in the interconversion of one-carbon derivatives of tetrahydrofolate. These reactions are essential for methionine synthesis, thymidylate synthesis, and de novo purine biosynthesis. Mutations in MTHFD1 can cause methylenetetrahydrofolate dehydrogenase 1 deficiency, leading to immune dysfunction and anemia.
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