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 |
EC Number | Cloned (Comment) | Organism |
---|---|---|
1.6.2.2 | expression in Escherichia coli | Rattus norvegicus |
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 |
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+ | - |
? |
EC Number | Organism | UniProt | Comment | Textmining |
---|---|---|---|---|
1.6.2.2 | Homo sapiens | P00387 | - |
- |
1.6.2.2 | Rattus norvegicus | P20070 | - |
- |
EC Number | Purification (Comment) | Organism |
---|---|---|
1.6.2.2 | recombinant enzyme | Rattus norvegicus |
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+ | - |
? |
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 |
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 |