Literature summary extracted from

Wintner, S.; Hafner, E.; Stonek, F.; Stuempflen, I.; Metzenbauer, M.; Philipp, K.
Association of congenital cardiac defects and the C677T methylenetetrahydrofolate reductase polymorphism (2007), Prenat. Diagn., 27, 704-708.

Protein Variants

EC Number	Protein Variants	Comment	Organism
1.5.1.20	additional information	the MTHFR gene polymorphism C677T is not associated with congenital heart disease and may be linked to the development of aortic arch anomalies	Homo sapiens

Organism

EC Number	Organism	UniProt	Comment	Textmining
1.5.1.20	Homo sapiens	-	-	-

Source Tissue

EC Number	Source Tissue	Comment	Organism	Textmining
1.5.1.20	buccal mucosa	-	Homo sapiens	-

Substrates and Products (Substrate)

EC Number	Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
1.5.1.20	5,10-methylenetetrahydrofolate + reduced acceptor	-	Homo sapiens	5-methyltetrahydrofolate + oxidized acceptor	-	ir

Synonyms

EC Number	Synonyms	Comment	Organism
1.5.1.20	methylenetetrahydrofolate reductase	-	Homo sapiens
1.5.1.20	MTHFR	-	Homo sapiens

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Release 2023.1 (January 2023)