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Literature summary extracted from

  • Percy, M.J.; Lappin, T.R.
    Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency (2008), Br. J. Haematol., 141, 298-308.
    View publication on PubMed

Application

EC Number Application Comment Organism
1.6.2.2 medicine to establish a diagnosis of recessive congenital methaemoglobinaemia (RCM), it is important to demonstrate enzyme deficiency of cb5r and this is usually done using a spectrophotometric method,. RCM type I patients manifest a deficiency of cb5r in erythrocytes only whereas type II patients harbour the deficiency in both erythrocytes and leucocytes Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.6.2.2 expression in Escherichia coli Rattus norvegicus

Protein Variants

EC Number Protein Variants Comment Organism
1.6.2.2 additional information naturally occurring mutations of CYB5R3 detected in patients with recessive congenital methaemoglobinaemia 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 Rattus norvegicus
-
2 ferrocytochrome b5 + NAD+ + H+
-
?
1.6.2.2 2 ferricytochrome b5 + NADH Homo sapiens recessive congenital methaemoglobinaemia, is caused by NADH-cytochrome b5 reductase deficiency. Two distinct clinical forms, types I and II, are recognized, both characterized by cyanosis from birth. In type II, the cyanosis is accompanied by neurological impairment and reduced life expectancy 2 ferrocytochrome b5 + NAD+ + H+
-
?

Organism

EC Number Organism UniProt Comment Textmining
1.6.2.2 Homo sapiens P00387
-
-
1.6.2.2 Rattus norvegicus P20070
-
-

Purification (Commentary)

EC Number Purification (Comment) Organism
1.6.2.2 recombinant enzyme Rattus norvegicus

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.6.2.2 2 ferricytochrome b5 + NADH
-
Rattus norvegicus 2 ferrocytochrome b5 + NAD+ + H+
-
?
1.6.2.2 2 ferricytochrome b5 + NADH recessive congenital methaemoglobinaemia, is caused by NADH-cytochrome b5 reductase deficiency. Two distinct clinical forms, types I and II, are recognized, both characterized by cyanosis from birth. In type II, the cyanosis is accompanied by neurological impairment and reduced life expectancy Homo sapiens 2 ferrocytochrome b5 + NAD+ + H+
-
?

Synonyms

EC Number Synonyms Comment Organism
1.6.2.2 cb5r
-
Rattus norvegicus
1.6.2.2 CYB5R3
-
Homo sapiens
1.6.2.2 CYB5R3
-
Rattus norvegicus
1.6.2.2 cytochrome b5 reductase
-
Rattus norvegicus

Cofactor

EC Number Cofactor Comment Organism Structure
1.6.2.2 FAD cytochrome b5 reductase is composed of one FAD and one NADH binding domain linked by a hinge region Homo sapiens