Mthfd1 - methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

Predicted to enable formate-tetrahydrofolate ligase activity; methenyltetrahydrofolate cyclohydrolase activity; and methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity. Involved in nucleotide metabolic process; one-carbon metabolic process; and response to nitrogen dioxide. Predicted to be located in cytoplasm. Predicted to be active in cytosol. Human ortholog(s) of this gene implicated in several diseases, including Down syndrome; cleft lip; developmental cardiac valvular defect; neural tube defect (multiple); and tetralogy of Fallot. Orthologous to human MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1). [provided by Alliance of Genome Resources, Apr 2022]