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Official Full Name
ethylmalonic encephalopathy 1
Background
This gene encodes a sulfur dioxygenase that localizes within the mitochondrial matrix. The enzyme functions in sulfide catabolism. Mutations in this gene result in ethylmalonic encephalopathy.
Synonyms
ETHE1; ethylmalonic encephalopathy 1; protein ETHE1, mitochondrial; HSCO; YF13H12; ethylmalonic encephalopathy protein 1; hepatoma subtracted clone one protein; HSCO, YF13H12; zgc:85680; persulfide dioxygenase ETHE1, mitochondrial

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