ETFDH

From Wikipedia, the free encyclopedia

Electron-transferring-flavoprotein dehydrogenase

PDB rendering based on 2gmh.

Available structures: 2gmh, 2gmj

Identifiers

Symbol(s)

ETFDH; MADD; ETFQO

External IDs

OMIM: 231675 MGI: 106100 HomoloGene: 3275

Gene ontology
Molecular Function:	• electron-transferring-flavoprotein dehydrogenase activity • iron ion binding • electron acceptor activity • oxidoreductase activity • metal ion binding • 4 iron, 4 sulfur cluster binding
Cellular Component:	• membrane fraction • mitochondrion • mitochondrial inner membrane • membrane • integral to membrane
Biological Process:	• electron transport • transport

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_004453 (mRNA)
NP_004444 (protein)

NM_025794 (mRNA)
NP_080070 (protein)

Location

Chr 4: 159.81 - 159.85 Mb

Chr 3: 79.69 - 79.71 Mb

Pubmed search

[1]

[2]

Electron-transferring-flavoprotein dehydrogenase, also known as ETFDH, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: ETFDH electron-transferring-flavoprotein dehydrogenase.

[edit] Further reading

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. doi:10.1093/brain/awm135. PMID 17584774.
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. doi:10.1093/brain/awm054. PMID 17412732.
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. doi:10.1101/gr.4039406. PMID 16344560.
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. doi:10.1101/gr.2596504. PMID 15489334.
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. doi:10.1002/humu.10226. PMID 12815589.
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. doi:10.1073/pnas.242603899. PMID 12477932.
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.
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. doi:10.1042/BJ20020042. PMID 12049629.
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. doi:10.1006/geno.1996.0170. PMID 8617498.
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.