Electron-transfer-flavoprotein, alpha polypeptide (ETFA)

What is the official name of the ETFA gene?

The official name of this gene is “electron-transfer-flavoprotein, alpha polypeptide.”

ETFA is the gene's official symbol. The ETFA gene is also known by other names, listed below.

What is the normal function of the ETFA gene?

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.

How are changes in the ETFA gene related to health conditions?

glutaric acidemia type II - caused by mutations in the ETFA gene 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.

Where is the ETFA gene located?

Cytogenetic Location: 15q23-q25

Molecular Location on chromosome 15: base pairs 74,295,690 to 74,390,783

The ETFA gene is located on the long (q) arm of chromosome 15 between positions 23 and 25.

More precisely, the ETFA gene is located from base pair 74,295,690 to base pair 74,390,783 on chromosome 15.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about ETFA?

You and your healthcare professional may find the following resources about ETFA helpful.

• Gene Tests - DNA tests ordered by healthcare professionals

You may also be interested in these resources, which are designed for genetics professionals and researchers.

• PubMed - Recent literature
• OMIM - Genetic disorder catalog
• Research Resources - Tools for researchers (3 links)

What other names do people use for the ETFA gene or gene products?

• Electron transfer flavoprotein, alpha polypeptide
• electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II)
• electron transfer flavoprotein alpha-subunit
• electron-transferring-flavoprotein, alpha polypeptide (glutaric aciduria II)
• EMA
• ETFA_HUMAN
• GA2
• MADD

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

• What is DNA?
• What is a gene?
• How do genes direct the production of proteins?
• How can gene mutations affect health and development?

These links provide additional genetics resources that may be useful.

• Genetics education
• Human Genome Project
• Resources for Genetic Researchers

What glossary definitions help with understanding ETFA?

aciduria ; cell ; compound ; deficiency ; electron ; enzyme ; gene ; metabolism ; mitochondria ; mutation ; polypeptides ; protein ; sign ; stress ; subunit ; symptom ; toxic

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References

These sources were used to develop the Genetics Home Reference gene summary on the ETFA gene.

• 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. PubMed citation
• Entrez Gene
• 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. PubMed citation
• 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. PubMed citation
• OMIM
• 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. PubMed citation
• 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. PubMed citation
• 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. PubMed citation
• 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. PubMed citation