ETHE1 persulfide dioxygenase
Last updated 27 Jun 2022
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The ETHE1 gene provides instructions for making an enzyme that is active in mitochondria, which are the energy-producing centers in cells. The ETHE1 enzyme is part of a pathway that breaks down a molecule called sulfide (H2S) in mitochondria. Sulfide is produced in the body's tissues as part of normal cell processes, and it is also released by bacteria living in the gastrointestinal system (gut).
Normal function
The ETHE1 gene provides instructions for making an enzyme that is active in mitochondria, which are the energy-producing centers in cells. The ETHE1 enzyme is part of a pathway that breaks down a molecule called sulfide (H2S) in mitochondria. Sulfide is produced in the body's tissues as part of normal cell processes, and it is also released by bacteria living in the gastrointestinal system (gut).
At low levels, sulfide is critical for normal cell functioning. However, this molecule becomes toxic at high levels, interfering with numerous cell activities. For example, excess sulfide interferes with mitochondrial energy production by blocking (inhibiting) an enzyme complex called cytochrome C oxidase (COX). This complex normally carries out one of the final steps in the process of energy production in mitochondria.
Conditions referring to this gene or chromosome
Other names
ETHE1_HUMAN
ethylmalonic encephalopathy 1
Ethylmalonic encephalopathy protein 1
hepatoma subtracted clone one
HSCO
YF13H12
Further reading and references
- ETHE1 persulfide dioxygenase; MedlinePlus, National Library of Medicine.
- Di Meo I, Fagiolari G, Prelle A, Viscomi C, Zeviani M, Tiranti V. Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy. Antioxid Redox Signal. 2011 Jul 15;15(2):353-62. doi: 10.1089/ars.2010.3520. Epub 2011 Feb 25.
- Pettinati I, Brem J, McDonough MA, Schofield CJ. Crystal structure of human persulfide dioxygenase: structural basis of ethylmalonic encephalopathy. Hum Mol Genet. 2015 May 1;24(9):2458-69. doi: 10.1093/hmg/ddv007. Epub 2015 Jan 16.
- 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. doi: 10.1136/jmg.2005.036210. Epub 2005 Sep 23.
- 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. doi: 10.1086/381653. Epub 2004 Jan 19.
- Tiranti V, Viscomi C, Hildebrandt T, Di Meo I, Mineri R, Tiveron C, Levitt MD, Prelle A, Fagiolari G, Rimoldi M, Zeviani M. Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med. 2009 Feb;15(2):200-5. doi: 10.1038/nm.1907. Epub 2009 Jan 11.
- Tiranti V, Zeviani M. Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy. Cold Spring Harb Perspect Biol. 2013 Jan 1;5(1):a011437. doi: 10.1101/cshperspect.a011437.
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