Gene Symbol | ETHE1 |
Entrez Gene ID | 23474 |
Full Name | ETHE1, persulfide dioxygenase |
Synonyms | HSCO,YF13H12 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Ethylmalonic encephalopathy, 602473 (3) |