Methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 (MTHFD1) possesses 5, 10-methylenetetrahydrofolate dehydrogenase, 5, 10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase activity. The gene encoding this protein is localized on human chromosome 14q23.3.
Immunogen
Peptide with sequence RGDLNDCFIPCTPK from the internal region of the protein sequence according to NP_005947.2.
Biochem/physiol Actions
Methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 (MTHFD1) has a role in folate-mediated one-carbon metabolism. It is involved in the conversion of formate and tetrahydrofolate to 5, 10-methylenetetrahydrofolate.
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Physical form
Supplied at 0.5 mg/mL in Tris saline with 0.02% sodium azide and 0.5% bovine serum albumin.
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
Burda P
Journal of inherited metabolic disease (2015)
Genetic variation in genes involved in folate and drug metabolism in a south Indian population
Padmalatha S Rai
Indian Journal of Human Genetics (2011)
MTHFD1 regulates nuclear de novo thymidylate biosynthesis and genome stability.
Field MS
Biochimie (2016)
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