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Genetics Home Reference: your guide to understanding genetic conditions
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ETHE1

Reviewed August 2006

What is the official name of the ETHE1 gene?

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.

What is the normal function of the ETHE1 gene?

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.

How are changes in the ETHE1 gene related to health conditions?

ethylmalonic encephalopathy - caused by mutations in the ETHE1 gene

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.

Where is the ETHE1 gene located?

Cytogenetic Location: 19q13.31

Molecular Location on chromosome 19: base pairs 44,010,870 to 44,031,395

The ETHE1 gene is located on the long (q) arm of chromosome 19 at position 13.31.

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 44,010,870 to base pair 44,031,395 on chromosome 19.

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 ETHE1?

You and your healthcare professional may find the following resources about ETHE1 helpful.

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for ETHE1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23474%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=((ETHE1%5BTIAB%5D)%20OR%20(ethylmalonic%20encephalopathy%201%5BTIAB%5D))%20OR%20((hepatoma%20subtracted%20clone%20one%5BTIAB%5D)%20OR%20(HSCO%5BTIAB%5D)%20OR%20(YF13H12%5BTIAB%5D)%20OR%20(Ethylmalonic%20encephalopathy%20protein%201%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/608451)

  • Research Resources - Tools for researchers

    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/23474)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=23474)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=23287)

What other names do people use for the ETHE1 gene or gene products?

  • ETHE1_HUMAN
  • Ethylmalonic encephalopathy protein 1
  • hepatoma subtracted clone one
  • HSCO
  • YF13H12

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 ETHE1?

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).

References

  • Di Rocco M, Caruso U, Briem E, Rossi A, Allegri AE, Buzzi D, Tiranti V. A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. Mol Genet Metab. 2006 Dec;89(4):395-7. Epub 2006 Jul 7. (http://www.ncbi.nlm.nih.gov/pubmed/16828325?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/23474)
  • Heberle LC, Al Tawari AA, Ramadan DG, Ibrahim JK. Ethylmalonic encephalopathy-report of two cases. Brain Dev. 2006 Jun;28(5):329-31. Epub 2006 Jan 10. (http://www.ncbi.nlm.nih.gov/pubmed/16376514?dopt=Abstract)
  • Tiranti V, Briem E, Lamantea E, Mineri R, Papaleo E, De Gioia L, Forlani F, Rinaldo P, Dickson P, Abu-Libdeh B, Cindro-Heberle L, Owaidha M, Jack RM, Christensen E, Burlina A, Zeviani M. ETHE1 mutations are specific to ethylmalonic encephalopathy. J Med Genet. 2006 Apr;43(4):340-6. Epub 2005 Sep 23. (http://www.ncbi.nlm.nih.gov/pubmed/16183799?dopt=Abstract)
  • Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M. Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet. 2004 Feb;74(2):239-52. Epub 2004 Jan 19. (http://www.ncbi.nlm.nih.gov/pubmed/14732903?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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2006
Published: May 20, 2013