MTHFD1 (Methylenetetrahydrofolate Dehydrogenase 1): MTHFD1 is a key enzyme in the folate metabolism pathway, catalyzing the conversion of tetrahydrofolate (THF) derivatives into forms used in the synthesis of DNA, RNA, and amino acids. It plays a crucial role in the one-carbon metabolism pathway, affecting cellular methylation reactions and nucleotide biosynthesis. Mutations or dysregulation of MTHFD1 can lead to disturbances in folate metabolism, associated with increased risk of congenital defects, cardiovascular diseases, and cancer, highlighting its pivotal role in cellular growth and replication processes.


Test(s) that measure/test for MTHFD1

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