Literature summary 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 .

Localization

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

Natural Substrates/ Products (Substrates)

EC Number	Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
1.5.5.1	reduced electron-transferring flavoprotein + ubiquinone	Homo sapiens	-	electron-transferring flavoprotein + ubiquinol	-	?

Organism

EC Number	Organism	UniProt	Comment	Textmining
1.5.5.1	Homo sapiens	Q16134	-	-

Source Tissue

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

Substrates and Products (Substrate)

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

Synonyms

EC Number	Synonyms	Comment	Organism
1.5.5.1	electron transfer flavoprotein dehydrogenase	-	Homo sapiens
1.5.5.1	ETFDH	-	Homo sapiens

Cofactor

EC Number	Cofactor	Comment	Organism	Structure
1.5.5.1	ubiquinone	-	Homo sapiens

General Information

EC Number	General Information	Comment	Organism
1.5.5.1	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

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Release 2023.1 (January 2023)