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Literature summary for 1.6.2.2 extracted from

  • Rawa, K.; Chelmecka-Hanusiewicz, L.; Plochocka, D.; Pawinska-Wasikowska, K.; Balwierz, W.; Burzynska, B.
    Characterization of a novel mutation in the NADH-cytochrome b5 reductase gene responsible for rare hereditary methaemoglobinaemia type I (2013), Acta Haematol., 130, 122-125 .
    View publication on PubMed
Search for more literature for 1.6.2.2

Protein Variants

Protein Variants Comment Organism
V172L the mutation leads to recessive congenital methaemoglobinaemia type I Homo sapiens

Natural Substrates/ Products (Substrates)

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

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

Synonyms

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

Cofactor

Cofactor Comment Organism Structure
FAD
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction recessive congenital methaemoglobinaemia is caused by a deficiency of NADH-cytochrome b5 reductase Homo sapiens