ETFDH

Identifiers

ETFDH, electron-transferring-flavoprotein dehydrogenase, ETFQO, MADD, electron transfer flavoprotein dehydrogenase

External IDs

MGI: 106100 HomoloGene: 3275 GeneCards: ETFDH

Gene ontology
Molecular function	• 4 iron, 4 sulfur cluster binding • ubiquinone binding • quinone binding • flavin adenine dinucleotide binding • iron-sulfur cluster binding • metal ion binding • electron carrier activity • oxidoreductase activity • electron-transferring-flavoprotein dehydrogenase activity • oxidoreductase activity, oxidizing metal ions with flavin as acceptor
Cellular component	• membrane • integral component of mitochondrial inner membrane • mitochondrial matrix • mitochondrion • mitochondrial inner membrane • mitochondrial membrane • mitochondrial electron transfer flavoprotein complex
Biological process	• fatty acid beta-oxidation using acyl-CoA dehydrogenase • response to oxidative stress • oxidation-reduction process • electron transport chain • respiratory electron transport chain
Sources:Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

Entrez


2110


66841

Ensembl


ENSG00000171503


ENSMUSG00000027809

UniProt


Q16134


Q921G7

RefSeq (mRNA)


NM_004453 NM_001281737 NM_001281738


NM_025794

RefSeq (protein)


NP_001268666 NP_001268667 NP_004444


NP_080070

Location (UCSC)

Chr 4: 158.67 – 158.71 Mb

Chr 3: 79.6 – 79.63 Mb

PubMed search

^[1]

^[2]

Wikidata

View/Edit Human

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Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial is an enzyme that in humans is encoded by the ETFDH gene.^[3]

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.^[3]

References

Olsen RK, Olpin SE, Andresen BS, et al. (2007). "ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.". Brain. 130 (Pt 8): 2045–54. PMID 17584774. doi:10.1093/brain/awm135.
Gempel K, Topaloglu H, Talim B, et al. (2007). "The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.". Brain. 130 (Pt 8): 2037–44. PMID 17412732. doi:10.1093/brain/awm054.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. PMC 1356129 . PMID 16344560. doi:10.1101/gr.4039406.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
Olsen RK, Andresen BS, Christensen E, et al. (2003). "Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.". Hum. Mutat. 22 (1): 12–23. PMID 12815589. doi:10.1002/humu.10226.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
Goodman SI, Binard RJ, Woontner MR, Frerman FE (2003). "Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene.". Mol. Genet. Metab. 77 (1–2): 86–90. PMID 12359134. doi:10.1016/S1096-7192(02)00138-5.
Simkovic M, Degala GD, Eaton SS, Frerman FE (2002). "Expression of human electron transfer flavoprotein-ubiquinone oxidoreductase from a baculovirus vector: kinetic and spectral characterization of the human protein". Biochem. J. 364 (Pt 3): 659–67. PMC 1222614 . PMID 12049629. doi:10.1042/BJ20020042.
White RA, Dowler LL, Angeloni SV, Koeller DM (1996). "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". Genomics. 33 (1): 131–4. PMID 8617498. doi:10.1006/geno.1996.0170.
Goodman SI, Axtell KM, Bindoff LA, et al. (1994). "Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase". Eur. J. Biochem. 219 (1–2): 277–86. PMID 8306995. doi:10.1111/j.1432-1033.1994.tb19939.x.

PDB gallery

2gmh: Structure of Porcine Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase in Complexed with Ubiquinone

2gmj: Structure of Porcine Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase

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ETFDH

References

Further reading