Literature summary for 6.3.4.3 extracted from

Hol, F.A.; van der Put, N.M.; Geurds, M.P.; Heil, S.G.; Trijbels, F.J.; Hamel, B.C.; Mariman, E.C.; Blom, H.J.
Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects (1998), Clin. Genet., 53, 119-125.

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Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
ATP + formate + tetrahydrofolate	Homo sapiens	-	ADP + phosphate + 10-formyltetrahydrofolate	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	mutation in MTHFD can act as a risk factor in human neural tube defects, however, it is unlikely that this gene plays a major role in the etiology of neural tube defects	-

Source Tissue

Source Tissue	Comment	Organism	Textmining

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
ATP + formate + tetrahydrofolate	-	Homo sapiens	ADP + phosphate + 10-formyltetrahydrofolate	-	?

Synonyms

Synonyms	Comment	Organism
MTHFD	-	Homo sapiens

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Release 2023.1 (January 2023)