Reviewed July 2008
What is the official name of the ETFA gene?
The official name of this gene is “electron transfer flavoprotein alpha subunit.”
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 76,216,287 to 76,311,469
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/2108))
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 76,216,287 to base pair 76,311,469 on chromosome 15.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about ETFA?
You and your healthcare professional may find the following resources about ETFA helpful.
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for ETFA (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2108%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28ETFA%5BTIAB%5D%29%20OR%20%28%28MADD%5BTIAB%5D%29%20OR%20%28electron%20transfer%20flavoprotein%20alpha-subunit%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/608053)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_ETFA.html)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=3481)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2108)
What other names do people use for the ETFA gene or gene products?
- Electron transfer flavoprotein, alpha polypeptide
- 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)
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding ETFA?
You may find definitions for these and many other terms in the Genetics Home Reference
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/10356313?dopt=Abstract)
- OMIM: ELECTRON TRANSFER FLAVOPROTEIN, ALPHA POLYPEPTIDE (http://omim.org/entry/608053)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2108)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/12815589?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/15662686?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/12486872?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/9334218?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/16510302?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/8617498?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.