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Literature summary for 1.6.2.2 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.
    View publication on PubMed

Protein Variants

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

Natural Substrates/ Products (Substrates)

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
cb5r
-
Homo sapiens
NADH-cytochrome b5 reductase
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
NADH
-
Homo sapiens

General Information

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