Defects in MTHFD1 may be a cause of susceptibility to folate-sensitive neural tube defects (folate-sensitive NTD) [MIM:601634]. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. Genetic defects in MTHFD1 may affect the risk of spina bifida via the maternal rather than the embryonic genotype. Genetic variation in MTHFD1 could be associated with susceptibility to colorectal cancer (CRC) [MIM:114500].
In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family. In the C-terminal section; belongs to the formate--tetrahydrofolate ligase family.
This trifunctional enzyme consists of two major domains: an N-terminal part containing the methylene-THF dehydrogenase and cyclohydrolase activities and a larger C-terminal part containing formyl-THF synthetase activity.
Immunohistochemical analysis of formalin-fixed, paraffin-embedded Human lung carcinoma tissue labeling MTHFD1 with ab174237 at 1/50 dilution, followed by peroxidase conjugation of the secondary antibody and DAB staining.
Western blot - Anti-MTHFD1 antibody (ab174237)
Anti-MTHFD1 antibody (ab174237) at 1/50 dilution + Y79 cell lysate at 35 µg
Confocal immunofluorescent analysis of 293 cells labeling MTHFD1 with ab174237 at 1/10 dilution followed by Alexa Fluor 488-conjugated goat anti-rabbit lgG (green). DAPI was used to stain the cell nuclear (blue).