Synonyms: Ethe1,ETHE1 protein,mitochondrial precursor,ETHE1,ethylmalonic encephalopathy 1,Ethylmalonic encephalopathy protein 1,hepatoma subtracted clone one,Hepatoma subtracted clone one protein,HSCO,mitochondrial,Protein ETHE1,Protein ETHE1 mitochondrial,YF13H12
Background: This gene encodes a member of the metallo beta-lactamase family of iron-containing proteins involved in the mitochondrial sulfide oxidation pathway. The encoded protein catalyzes the oxidation of a persulfide substrate to sulfite. Certain mutations in this gene cause ethylmalonic encephalopathy, an infantile metabolic disorder affecting the brain, gastrointestinal tract and peripheral vessels. Alternative splicing results in multiple transcript variants encoding different isoforms.