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ETHE1 ETHE1 persulfide dioxygenase

Gene ID: 23474, updated on 25-Jan-2022
Gene type: protein coding
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]

Genomic context

Location:
19q13.31
Sequence:
Chromosome: 19; NC_000019.10 (43506719..43527201, complement)
Total number of exons:
7

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