NP_001268666.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
62,825 Da
NCBI Official Full Name
electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial isoform 2
NCBI Official Synonym Full Names
electron transfer flavoprotein dehydrogenase
NCBI Official Synonym Symbols
NCBI Protein Information
electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial
UniProt Protein Name
Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial
UniProt Synonym Protein Names
Electron-transferring-flavoprotein dehydrogenase; ETF dehydrogenase
UniProt Synonym Gene Names
UniProt Entry Name
ETFD_HUMAN
NCBI Summary for ETFDH
This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]
UniProt Comments for ETFDH
ETFDH: Accepts electrons from ETF and reduces ubiquinone. Defects in ETFDH are the cause of glutaric aciduria type 2C (GA2C). GA2C is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Belongs to the ETF-QO/FixC family.
Protein type: Membrane protein, integral; Oxidoreductase; Mitochondrial; EC 1.5.5.1
Chromosomal Location of Human Ortholog: 4q32-q35
Cellular Component: integral to mitochondrial inner membrane; mitochondrial matrix; mitochondrial membrane
Molecular Function: 4 iron, 4 sulfur cluster binding; electron carrier activity; electron-transferring-flavoprotein dehydrogenase activity; FAD binding; metal ion binding; oxidoreductase activity; oxidoreductase activity, oxidizing metal ions with flavin as acceptor; quinone binding; ubiquinone binding
Biological Process: cellular metabolic process; fatty acid beta-oxidation using acyl-CoA dehydrogenase; response to oxidative stress
Disease: Multiple Acyl-coa Dehydrogenase Deficiency
Research Articles on ETFDH
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Products associated with anti-ETFDH antibody
Pathways associated with anti-ETFDH antibody
Diseases associated with anti-ETFDH antibody
Organs/Tissues associated with anti-ETFDH antibody
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