Application | Comment | Organism |
---|---|---|
medicine | mutations in the ETFDH gene lead to a secondary myopathic form of CoQ10 deficiency and to the late-onset form of glutaric aciduria type II | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
L377P | the mutation is involved in the myopathic form of CoQ10 deficiency | Homo sapiens |
P456L | the mutation affects most likely the catalytic activity and the stability of the tetramer | Homo sapiens |
P483L | the mutation affects most likely the catalytic activity and the stability of the tetramer | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
muscle | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
reduced electron-transferring flavoprotein + ubiquinone-2 | - |
Homo sapiens | electron-transferring flavoprotein + ubiquinol-2 | - |
? |
Synonyms | Comment | Organism |
---|---|---|
Electron-transferring-flavoprotein dehydrogenase | - |
Homo sapiens |
ETFDH | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
FAD | - |
Homo sapiens |