The ETHE1 gene is located at 19q13.31 and encodes a 30-kDa polypeptide located in the mitochondrial matrix, which functions as a homodimeric, Fe-containing sulfur dioxygenase (SDO) involved in the catabolic oxidation of hydrogen sulfide (H2S) to sulfate. Impairment of ETHE1 activity causes chronic accumulation of sulfide in critical tissues, including colonic mucosa, liver, muscle, and brain, which induces the inhibition and the degradation of COX.
ETHE1 comprises seven exons. Several nonsense and missense pathogenic variants as well as single- and multi-exon deletions have been described throughout the gene. Deletion of exon 4 and of the entire gene are the most frequent large deletions.
ETHE1