ETHE1 is a human gene that codes for a putative enzyme involved in energy production in the mitochondria. The exact nature and function of this enzyme is not known. Studies in mice suggest that it is likely to be a sulfur dioxygenase involved in sulfide catabolism. Evidence suggests that the enzyme may be playing an active role in maintaining metabolic homeostasis in the mitochondria. There is also a possibility of the protein helping in the transport of transcription factor RELA/NFKB3 from the nucleus to the cytoplasm, thereby suppressing p53 induced apoptosis.
Mutations in the ETHE1 gene have been implicated in the pathogenesis of ethylmalonic encephalopathy (EE), an inborn error of metabolism, characterized by elevated excretion of ethylmalonic acid, recurrent petechia, orthostatic acrocyanosis, chronic diarrhea, and progressive neurodevelopmental delay, with a fatal outcome in early life.
Heberle et al. (2006) discovered a novel homozygous mutation in exon 3 of the ETHE1 gene in a patient with ethylmalonic encephalopathy from Kuwait.
Ismail et al. (2009) reported a Kuwaiti girl with ethylmalonic encephalopathy. Gene mutation study revealed homozygous deletion of exon 4 of the ETHE1 gene. The patient died at 14 months after extensive bronchopneumonia.