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Literature summary for 1.5.5.1 extracted from

  • Liu, X.Y.; Jin, M.; Wang, Z.Q.; Wang, D.N.; He, J.J.; Lin, M.T.; Fu, H.X.; Wang, N.
    Skeletal muscle magnetic resonance imaging of the lower limbs in late-onset lipid storage myopathy with electron transfer flavoprotein dehydrogenase gene mutations (2016), Chin. Med. Sci., 129, 1425-1431 .
    View publication on PubMedView publication on EuropePMC

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
-
Homo sapiens 5739
-

Natural Substrates/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens Q16134
-
-

Source Tissue

Source Tissue Comment Organism Textmining
skeletal muscle from thigh and limb Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
electron transfer flavoprotein dehydrogenase
-
Homo sapiens
ETFDH
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Homo sapiens

Cofactor

Cofactor Comment Organism Structure
ubiquinone
-
Homo sapiens

General Information

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