ETFDH

Electron-transferring-flavoprotein dehydrogenase, also known as ETFDH, is a human gene.cite web | title = Entrez Gene: ETFDH electron-transferring-flavoprotein dehydrogenase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2110| accessdate = ]

PBB_Summary
section_title =
summary_text = Electron-transferring-flavoprotein dehydrogenase in the inner mitochondrial membrane accepts electrons from electron-transfer flavoprotein which is located in the mitochondrial matrix and reduces ubiquinone in the mitochondrial membrane. The protein is synthesized as a 67-kDa precursor which is targeted to mitochondria and processed in a single step to a 64-kDa mature form located in the mitochondrial membrane. Deficiency in electron-transferring-flavoprotein dehydrogenase have been demonstrated in some patients with type II glutaricacidemia.cite web | title = Entrez Gene: ETFDH electron-transferring-flavoprotein dehydrogenase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2110| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Olsen RK, Olpin SE, Andresen BS, "et al." |title=ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. |journal=Brain |volume=130 |issue= Pt 8 |pages= 2045–54 |year= 2007 |pmid= 17584774 |doi= 10.1093/brain/awm135
*cite journal | author=Gempel K, Topaloglu H, Talim B, "et al." |title=The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. |journal=Brain |volume=130 |issue= Pt 8 |pages= 2037–44 |year= 2007 |pmid= 17412732 |doi= 10.1093/brain/awm054
*cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, "et al." |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Olsen RK, Andresen BS, Christensen E, "et al." |title=Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. |journal=Hum. Mutat. |volume=22 |issue= 1 |pages= 12–23 |year= 2003 |pmid= 12815589 |doi= 10.1002/humu.10226
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Goodman SI, Binard RJ, Woontner MR, Frerman FE |title=Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene. |journal=Mol. Genet. Metab. |volume=77 |issue= 1-2 |pages= 86–90 |year= 2003 |pmid= 12359134 |doi=
*cite journal | author=Simkovic M, Degala GD, Eaton SS, Frerman FE |title=Expression of human electron transfer flavoprotein-ubiquinone oxidoreductase from a baculovirus vector: kinetic and spectral characterization of the human protein. |journal=Biochem. J. |volume=364 |issue= Pt 3 |pages= 659–67 |year= 2002 |pmid= 12049629 |doi= 10.1042/BJ20020042
*cite journal | author=White RA, Dowler LL, Angeloni SV, Koeller DM |title=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. |journal=Genomics |volume=33 |issue= 1 |pages= 131–4 |year= 1996 |pmid= 8617498 |doi= 10.1006/geno.1996.0170
*cite journal | author=Goodman SI, Axtell KM, Bindoff LA, "et al." |title=Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase. |journal=Eur. J. Biochem. |volume=219 |issue= 1-2 |pages= 277–86 |year= 1994 |pmid= 8306995 |doi=

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