|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 lact