Literature summary extracted from

Arikoglu, T.; Yarali, N.; Kara, A.; Bay, A.; Bozkaya, I.O.; Tunc, B.; Percy, M.J.
A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia (2009), Pediatr. Hematol. Oncol., 26, 381-385.

Protein Variants

EC Number	Protein Variants	Comment	Organism
1.6.2.2	L218P	the mutation is associated with type I recessive congenital methemoglobinemia	Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number	Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
1.6.2.2	2 ferricytochrome b5 + NADH	Homo sapiens	-	2 ferrocytochrome b5 + NAD+ + H+	-	?

Organism

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

Substrates and Products (Substrate)

EC Number	Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
1.6.2.2	2 ferricytochrome b5 + NADH	-	Homo sapiens	2 ferrocytochrome b5 + NAD+ + H+	-	?

Synonyms

EC Number	Synonyms	Comment	Organism
1.6.2.2	cb5r	-	Homo sapiens
1.6.2.2	NADH-cytochrome b5 reductase	-	Homo sapiens

Cofactor

EC Number	Cofactor	Comment	Organism	Structure
1.6.2.2	NADH	-	Homo sapiens

General Information

EC Number	General Information	Comment	Organism
1.6.2.2	malfunction	congenital methemoglobinemia due to deficiency of NADH-cytochrome b5 reductase is an autosomal recessive disorder characterized by life long cyanosis	Homo sapiens

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Release 2023.1 (January 2023)