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URL of this page: https://medlineplus.gov/genetics/gene/etfdh/

ETFDH gene

electron transfer flavoprotein dehydrogenase

Normal Function

The ETFDH gene provides instructions for making an enzyme called electron transfer flavoprotein dehydrogenase. This enzyme is normally active in the mitochondria, the energy-producing centers in cells. Electron transfer flavoprotein dehydrogenase is involved in the process by which fats and proteins are broken down to produce energy.

Health Conditions Related to Genetic Changes

Glutaric acidemia type II

Some mutations in the ETFDH gene prevent the production of the electron transfer flavoprotein dehydrogenase enzyme. Other mutations result in the production of a defective enzyme that cannot fulfill its role in the series of reactions (metabolic pathways) that break down fats and proteins. This enzyme deficiency allows these nutrients, as well as compounds created as the nutrients are partially broken down, to build up to abnormal levels, especially when the body is under stress. Toxic products of incomplete metabolism damage cells in many body systems, resulting in the signs and symptoms of glutaric acidemia type II.

More About This Health Condition

Other Names for This Gene

  • electron transfer flavoprotein ubiquinone oxidoreductase
  • electron transfer flavoprotein-Q oxidoreductases
  • electron-transferring-flavoprotein dehydrogenase
  • ETF dehydrogenase
  • ETF-ubiquinone oxidoreductase
  • ETFD_HUMAN
  • ETFQO

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Goodman SI, Binard RJ, Woontner MR, Frerman FE. Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene. Mol Genet Metab. 2002 Sep-Oct;77(1-2):86-90. doi: 10.1016/s1096-7192(02)00138-5. Citation on PubMed
  • Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Mutat. 2003 Jul;22(1):12-23. doi: 10.1002/humu.10226. Citation on PubMed
  • Olsen RK, Andresen BS, Christensen E, Mandel H, Skovby F, Nielsen JP, Knudsen I, Vianey-Saban C, Simonsen H, Gregersen N. DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency. Prenat Diagn. 2005 Jan;25(1):60-4. doi: 10.1002/pd.983. Citation on PubMed
  • Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, Frerman FE, Beresford MW, Dean JC, Cornelius N, Andersen O, Oldfors A, Holme E, Gregersen N, Turnbull DM, Morris AA. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain. 2007 Aug;130(Pt 8):2045-54. doi: 10.1093/brain/awm135. Epub 2007 Jun 20. Citation on PubMed
  • Spector EB, Seltzer WK, Goodman SI. Assignment of electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO) to human chromosome 4q33 by fluorescence in situ hybridization and somatic cell hybridization. Mol Genet Metab. 1999 Aug;67(4):364-7. doi: 10.1006/mgme.1999.2873. Citation on PubMed
  • White RA, Dowler LL, Angeloni SV, Koeller DM. 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. 1996 Apr 1;33(1):131-4. doi: 10.1006/geno.1996.0170. Citation on PubMed

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.