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Literature summary for 1.5.5.1 extracted from

  • Gempel, K.; Topaloglu, H.; Talim, B.; Schneiderat, P.; Schoser, B.G.; Hans, V.H.; Palmafy, B.; Kale, G.; Tokatli, A.; Quinzii, C.; Hirano, M.; Naini, A.; DiMauro, S.; Prokisch, H.; Lochmueller, H.; Horvath, R.
    The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene (2007), Brain, 130, 2037-2044.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 1.5.5.1

Application

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

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

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
muscle
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
reduced electron-transferring flavoprotein + ubiquinone-2
-
 Homo sapiens electron-transferring flavoprotein + ubiquinol-2
-
 ?

Synonyms

Synonyms Comment Organism
Electron-transferring-flavoprotein dehydrogenase
-
 Homo sapiens
ETFDH
-
 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
FAD
-
 Homo sapiens