Description
Product Characteristics: 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.,ETHE1,HSCO,YF13H12,Cancer,Tumor suppressors,p53 pathway,Signal Transduction,Cell Biology & Developmental Biology,Apoptosis,Endocrine & Metabolism,Mitochondrial metabolism,Mitochondrial markers,ETHE1
Target Information: 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.[provided by RefSeq, May 2009]