ETHE1 persulfide dioxygenase (ETHE1)

ETHE1 persulfide dioxygenase is a mitochondrial enzyme encoded by the ETHE1 gene on chromosome 19, principally functioning as a sulfur dioxygenase. It catalyzes the oxygen-dependent oxidation of glutathione persulfide to glutathione and persulfite, protecting cells from hydrogen sulfide toxicity and ensuring mitochondrial energy production. ETHE1 is particularly active in the gastrointestinal tract, but also in the liver and thyroid, and is essential for cellular bioenergetics and redox balance. Mutations in the ETHE1 gene lead to ethylmalonic encephalopathy, a devastating early-onset multisystem disease characterized by neurological degeneration, vascular pathology, and chronic diarrhea. The enzyme is a non-heme iron-dependent oxygenase, structurally belonging to the metallo-β-lactamase superfamily, and features a specialized active site coordinating iron and facilitating substrate turnover. Beyond rare genetic disorders, altered expression has been noted in some cancers, suggesting broader metabolic and biomarker significance.

Other names

Ethylmalonic encephalopathy protein 1Sulfur dioxygenase ETHE1SDOProtein ETHE1, mitochondrialETHE1 gene/protein

For hypothetical or experimental inhibitors, likely inhibition of sulfur dioxygenase activity to modulate H₂S metabolism or related redox signaling