MTHFD1 Antibody (A-8): sc-271412

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Methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) is a 935-amino acid, folate-dependent protein that is responsible for the consecutive interconversion of tetrahydrofolate derivatives which drive the synthesis of purine, methionine, and thymidylate. The cytosolic MRHFD1 contains three subunits, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase, and 10-formyltetrahydrofolate synthetase, each with distinct activities. MTHFD1 functions as a homodimer consisting of two major domains, an N-terminal containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain in the C-terminus. Mutations in the MTHFD1 gene in pregnant women are associated with an increased risk of giving birth to a child with a neural tube defect, along with a possible risk of decreased embryo survival. MTHFD1 also plays a role in migraine development, since folate metabolism is involved in migraine pathophysiology, mainly in migraine with aura.