Literature summary for 3.5.4.9 extracted from

Parle-McDermott, A.; Pangilinan, F.; Mills, J.L.; Signore, C.C.; Molloy, A.M.; Cotter, A.; Conley, M.; Cox, C.; Kirke, P.N.; Scott, J.M.; Brody, L.C.
A polymorphism in the MTHFD1 gene increases a mothers risk of having an unexplained second trimester pregnancy loss (2005), Mol. Hum. Reprod., 11, 477-480.

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Protein Variants

Protein Variants	Comment	Organism
R653Q	geneotype analysis of 125 women, A1958A polymorphism, leading to amino acid exchange R653Q, in the MTHFD1 gene 1.64fold increases a mothers risk of having an unexplained second trimester pregnancy loss, overview	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	female	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	trifunctional folate enzyme	Homo sapiens	?	-	?

Synonyms

Synonyms	Comment	Organism
methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase	trifunctional folate enzyme	Homo sapiens
MTHFD1	-	Homo sapiens

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Release 2023.1 (January 2023)