Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Homo sapiens | 5739 | - |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
reduced electron-transferring flavoprotein + ubiquinone | Homo sapiens | - |
electron-transferring flavoprotein + ubiquinol | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q16134 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
skeletal muscle | from thigh and limb | Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
reduced electron-transferring flavoprotein + ubiquinone | - |
Homo sapiens | electron-transferring flavoprotein + ubiquinol | - |
? |
Synonyms | Comment | Organism |
---|---|---|
electron transfer flavoprotein dehydrogenase | - |
Homo sapiens |
ETFDH | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
ubiquinone | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | deficiency of ETF or ETFDH leads to dysfunction of acyl-CoA dehydrogenase, resulting in accumulation of long- and medium-chain fatty acids. Multiple acyl-CoA dehydrogenation deficiency (MADD) occurs due to mutations of electron transfer flavoprotein-dehydrogenase, including c.250G>A, c.380T>A, c.770A>G, c.1601C>T, and c.524G>A. Lipid storage myopathy (LSM) is a genetically heterogeneous group with variable clinical phenotypes. Late-onset multiple acyl-coenzyme A dehydrogenation deficiency (MADD) is a rather common form of LSM in China, phenotypewith neuromuscular disorders, overview | Homo sapiens |