Literature summary extracted from

Aygun, C.; Tanyeri, B.; Ceyhan, M.; Bagci, H.; Kucukoduk, S.
Diffuse multicystic encephalomalacia in a preterm baby due to homozygous methylenetetrahydrofolate reductase 677 C->T mutation (2008), J. Child Neurol., 23, 695-698.

Protein Variants

EC Number	Protein Variants	Comment	Organism
1.5.1.20	additional information	the MTHFR gene polymorphism C677T is associated with diffuse multicystic encephalomalacia	Homo sapiens

Organism

EC Number	Organism	UniProt	Comment	Textmining
1.5.1.20	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	-	?

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)