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Literature summary for 1.6.2.2 extracted from

  • Fermo, E.; Bianchi, P.; Vercellati, C.; Marcello, A.P.; Garatti, M.; Marangoni, O.; Barcellini, W.; Zanella, A.
    Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene (2008), Blood Cells Mol. Dis., 41, 50-55.
    View publication on PubMed

Organism

Organism UniProt Comment Textmining
Homo sapiens P00387 patients with recessive hereditary methemoglobinemia due to cytochrome b5 reductase deficiency
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Source Tissue

Source Tissue Comment Organism Textmining
erythrocyte Cytb5r enzyme activity is drastically reduced in all patients with recessive hereditary methemoglobinemia. Eight different mutations are detected among the twelve mutated alleles identified Homo sapiens
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2 ferricyanide + NADH
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Homo sapiens 2 ferrocyanide + NAD+ + H+
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Synonyms

Synonyms Comment Organism
DIA1
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Homo sapiens
NADH-cytochrome b5 reductase
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Homo sapiens