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Gene Review:

Etfdh - electron transferring flavoprotein,...

Mus musculus

Synonyms: 0610010I20Rik, AV001013, ETF dehydrogenase, ETF-QO, ETF-ubiquinone oxidoreductase, ...

White, R.A. et al., Spector, E.B. et al., Chen, Y. et al.

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Disease relevance of Etfdh

In humans, deficiency of ETF or ETFDH leads to glutaric acidemia type II, an inherited metabolic disorder that can be fatal in its neonatal form and is characterized by severe hypoketotic hypoglycemia and acidosis [1].

High impact information on Etfdh

TPI and enolase are key enzymes in the glycolytic pathway, and ETF-QO serves as the transporter for electrons derived from a variety of oxidative processes to the mitochondria respiratory chain [2].
Electrons accepted by electron transfer flavoprotein (ETF) are transferred to the main mitochondrial respiratory chain by way of ETF dehydrogenase (ETFDH) [1].
Assignment of electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO) to human chromosome 4q33 by fluorescence in situ hybridization and somatic cell hybridization [3].
Electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO) is a nuclear-encoded protein located in the inner mitochondrial membrane [3].

References

Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human. White, R.A., Dowler, L.L., Angeloni, S.V., Koeller, D.M. Genomics (1996) [Pubmed]
Redox proteomic identification of oxidized cardiac proteins in Adriamycin-treated mice. Chen, Y., Daosukho, C., Opii, W.O., Turner, D.M., Pierce, W.M., Klein, J.B., Vore, M., Butterfield, D.A., St Clair, D.K. Free Radic. Biol. Med. (2006) [Pubmed]
Assignment of electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO) to human chromosome 4q33 by fluorescence in situ hybridization and somatic cell hybridization. Spector, E.B., Seltzer, W.K., Goodman, S.I. Mol. Genet. Metab. (1999) [Pubmed]

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AgaP_AGAP005894	Anopheles gambiae str. PEST
ETFQO	Arabidopsis thaliana
AGOS_ADR387W	Ashbya gossypii ATCC 10895
ETFDH	Bos taurus
let-721	Caenorhabditis elegans
ETFDH	Canis lupus familiaris
etfdh	Danio rerio
Etf-QO	Drosophila melanogaster
ETFDH	Gallus gallus
ETFDH	Homo sapiens
KLLA0C12991g	Kluyveromyces lactis NRRL Y-1140
ETFDH	Macaca mulatta
MGG_08880	Magnaporthe oryzae 70-15
NCU04768	Neurospora crassa OR74A
Os10g0516300	Oryza sativa Japonica Group
ETFDH	Pan troglodytes
Etfdh	Rattus norvegicus
CIR2	Saccharomyces cerevisiae S288c
SPAC20G8.04c	Schizosaccharomyces pombe 972h-
etfdh	Xenopus (Silurana) tropicalis

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