Automated description from the Alliance of Genome Resources (Release 7.0.0)
Enables formate-tetrahydrofolate ligase activity; methylenetetrahydrofolate dehydrogenase (NAD+) activity; and methylenetetrahydrofolate dehydrogenase (NADP+) activity. Involved in several processes, including neutrophil homeostasis; sulfur amino acid metabolic process; and tetrahydrofolate metabolic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in several diseases, including Down syndrome; abdominal aortic aneurysm; cleft lip; developmental cardiac valvular defect; and neural tube defect (multiple). Orthologous to human MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1).