ETHE1, Official Symbol ETHE1provided by HGNC Official Full Name ETHE1 persulfide dioxygenaseprovided by HGNC Primary source HGNC:HGNC:23287 See related Ensembl:ENSG00000105755 MIM:608451; AllianceGenome:HGNC:23287 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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 See more Orthologs mouse all