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a trifunctional enzyme combining a 10-formyl-H4folate synthetase, a 5,10-methenyl-H4folate cyclohydrolase, and a 5,10-methylene-H4folate dehydrogenase [RGD, Feb 2006]..
Deficiency of the MTHFD1 10-formyltetrahydrofolate synthetase activity in embryos is associated with increased incidence of congenital heart defects
methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), an enzyme that generates methylenetetrahydrofolate from formate, ATP, and NADPH (show FDXR ELISA Kits), functions in the nucleus to support de novo thymidylate biosynthesis.
Mthfd1gt/+ mice exhibited attentional dysfunction and a blunted affective response to committing an error. They also showed decreased expression levels for genes encoding choline dehydrogenase (show CHDH ELISA Kits) and the alpha 7 nicotinic cholinergic receptor (show CHRFAM7A ELISA Kits).
Data suggest that decreased MTHFD1 activity (here, insertional mutant heterozygotes) has greater impact on one-carbon metabolism compared with folate-deficient diet; no interaction was observed between MTHFD1 genotype and folate deficiency.
Data suggest that heterozygosity in a lethal Mthfd1 mutation impairs folate status in pregnant mice (i.e., impairs fetal growth) but does not significantly affect homocysteine metabolism (i.e., does not cause neural tube defects).
Mthfd1 is a modifier of chemically induced intestinal carcinogenesis.
MTHFD1 has a role in production of monofunctional 10-formyltetrahydrofolate synthetase in mammalian mitochondria
Mthfd1 is an essential gene in mice and alters biomarkers of impaired one-carbon metabolism.
a trifunctional enzyme combining a 10-formyl-H4folate synthetase, a 5,10-methenyl-H4folate cyclohydrolase, and a 5,10-methylene-H4folate dehydrogenase
C-1-tetrahydrofolate synthase, cytoplasmic
, C1-THF synthase
, C1-tetrahydrofolate synthase
, methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase