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?
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glutaric acidemia type II - caused by mutations in the ETFDH gene
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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 159,812,943 to 159,849,268
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 159,812,943 to base pair 159,849,268 on chromosome 4.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ETFDH?
You and your healthcare professional may find the following resources about ETFDH 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
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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
- ETFD_HUMAN
- ETFQO
- ETF-ubiquinone oxidoreductase
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding ETFDH?
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
healthcare professional.
See How can I find a genetics professional in my area? in the Handbook.
