Reviewed July 2008
What is the official name of the ETFDH gene?
The official name of this gene is “electron-transferring-flavoprotein dehydrogenase.”
ETFDH is the gene's official symbol. The ETFDH gene is also known by other names, listed below.
What is the normal function of the ETFDH gene?
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.
How are changes in the ETFDH gene related to health conditions?
- glutaric acidemia type II - caused by mutations in the ETFDH gene
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.
Where is the ETFDH gene located?
Cytogenetic Location: 4q32-q35
Molecular Location on chromosome 4: base pairs 159,593,276 to 159,629,841
The ETFDH gene is located on the long (q) arm of chromosome 4 between positions 32 and 35.
More precisely, the ETFDH gene is located from base pair 159,593,276 to base pair 159,629,841 on chromosome 4.
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 ETFDH?
You and your healthcare professional may find the following resources about ETFDH helpful.
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for ETFDH (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2110%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=((ETFDH%5BTIAB%5D)%20OR%20(electron-transferring-flavoprotein%20dehydrogenase%5BTIAB%5D))%20OR%20((MADD%5BTIAB%5D)%20OR%20(ETFQO%5BTIAB%5D)%20OR%20(ETF-ubiquinone%20oxidoreductase%5BTIAB%5D)%20OR%20(Electron%20transfer%20flavoprotein%5BTIAB%5D)%20OR%20(ubiquinone%20oxidoreductase%5BTIAB%5D)%20OR%20(electron%20transfer%20flavoprotein%20ubiquinone%20oxidoreductase%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%202520%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/231675)
Research Resources - Tools for researchers
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=2110)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=3483)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2110)
What other names do people use for the ETFDH gene or gene products?
- electron transfer flavoprotein-Q oxidoreductases
- electron transfer flavoprotein ubiquinone oxidoreductase
- ETF dehydrogenase
- ETF-ubiquinone oxidoreductase
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 ETFDH?
You may find definitions for these and many other terms in the Genetics Home Reference
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/12359134?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2110)
- 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)
- 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. Epub 2007 Jun 20. (http://www.ncbi.nlm.nih.gov/pubmed/17584774?dopt=Abstract)
- OMIM: ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE (http://omim.org/entry/231675)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/10444348?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.