|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “ethylmalonic encephalopathy 1.”
ETHE1 is the gene's official symbol. The ETHE1 gene is also known by other names, listed below.
The ETHE1 gene provides instructions for making an enzyme that is involved in energy production. This enzyme is active throughout the body in mitochondria (the energy-producing centers in cells), where it may form part of a larger protein complex. Little is known about the enzyme's function in mitochondria.
More than 20 different mutations in the ETHE1 gene have been identified in people with ethylmalonic encephalopathy. Most of these mutations lead to the production of an abnormally short, nonfunctional version of the ETHE1 enzyme or prevent cells from making any of this enzyme. These genetic changes impair the body's ability to produce energy in mitochondria. Additionally, a lack of the ETHE1 enzyme allows potentially toxic compounds, including ethylmalonic acid and lactic acid, to build up in the body. Excess amounts of these compounds can be detected in urine.
It is unclear how a loss of the ETHE1 enzyme leads to the progressive features of ethylmalonic encephalopathy. Researchers suggest that a buildup of toxic compounds in the brain could be responsible for the neurologic signs and symptoms. Changes in the blood vessels or in blood flow could also contribute to nervous system damage, leading to the characteristic features of the disorder.
Cytogenetic Location: 19q13.31
Molecular Location on chromosome 19: base pairs 43,506,718 to 43,527,243
The ETHE1 gene is located on the long (q) arm of chromosome 19 at position 13.31.
More precisely, the ETHE1 gene is located from base pair 43,506,718 to base pair 43,527,243 on chromosome 19.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ETHE1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
clone ; encephalopathy ; enzyme ; gene ; hepatoma ; hydrolase ; lactic acid ; mitochondria ; nervous system ; neurologic ; protein ; toxic
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.