Full name: ETHE1 persulfide dioxygenase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: HSCO; YF13H12

Summary: 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. [provided by RefSeq, Mar 2016]

Expression: Broad expression in colon (RPKM 85.9), duodenum (RPKM 30.9) and 20 other tissues

Gene size: 20483bp

Exon count: 7