This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008]
Subcellular Location:
Cytoplasm.
Tissue Specificity:
Ubiquitous.
DISEASE:
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].
Similarity:
In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family.
In the SLCterminal section; belongs to the formate--tetrahydrofolate ligase family.
SWISS:
P11586
Gene ID:
4522
Database links:
Entrez Gene: 4522 Human
Entrez Gene: 108156 Mouse
Entrez Gene: 64300 Rat
Omim: 17292 Human
SwissProt: P11586 Human
SwissProt: Q922D8 Mouse
SwissProt: P27653 Rat
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