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

ETFA gene

electron transfer flavoprotein subunit alpha
From Genetics Home Reference. Learn more

Normal Function

The ETFA gene provides instructions for making one part (the alpha subunit) of an enzyme called electron transfer flavoprotein. This enzyme is normally active in the mitochondria, the energy-producing centers in cells. Electron transfer flavoprotein 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 ETFA gene prevent the production of the electron transfer flavoprotein 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 alpha subunit
  • electron transfer flavoprotein alpha-subunit
  • Electron transfer flavoprotein, alpha polypeptide
  • electron-transfer-flavoprotein, alpha polypeptide
  • electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II)
  • electron-transferring-flavoprotein, alpha polypeptide (glutaric aciduria II)
  • EMA
  • ETFA_HUMAN
  • GA2
  • MADD

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Bross P, Pedersen P, Winter V, Nyholm M, Johansen BN, Olsen RK, Corydon MJ, Andresen BS, Eiberg H, Kolvraa S, Gregersen N. A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation. Mol Genet Metab. 1999 Jun;67(2):138-47. 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. 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. Citation on PubMed
  • Purevjav E, Kimura M, Takusa Y, Ohura T, Tsuchiya M, Hara N, Fukao T, Yamaguchi S. Molecular study of electron transfer flavoprotein alpha-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II. Eur J Clin Invest. 2002 Sep;32(9):707-12. Citation on PubMed
  • Salazar D, Zhang L, deGala GD, Frerman FE. Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein. J Biol Chem. 1997 Oct 17;272(42):26425-33. Citation on PubMed
  • Schiff M, Froissart R, Olsen RK, Acquaviva C, Vianey-Saban C. Electron transfer flavoprotein deficiency: functional and molecular aspects. Mol Genet Metab. 2006 Jun;88(2):153-8. Epub 2006 Feb 28. 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. Citation on PubMed
From Genetics Home Reference

Genetics Home Reference has merged with MedlinePlus. Genetics Home Reference content now can be found in the "Genetics" section of MedlinePlus. Learn more

The resources on this site should not be used as a substitute for professional medical care or advice. Users with questions about a personal health condition should consult with a qualified healthcare professional.