Reviewed July 2008
What is the official name of the ETFA gene?
The official name of this gene is “electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II).”
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?
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glutaric acidemia type II - caused by mutations in the ETFA gene
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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
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What other names do people use for the ETFA gene or gene products?
- Electron transfer flavoprotein, alpha polypeptide
- electron transfer flavoprotein alpha-subunit
- electron-transferring-flavoprotein, alpha polypeptide (glutaric aciduria II)
- EMA
- ETFA_HUMAN
- GA2
- MADD
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 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.
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.
