ETHE1
Chr 19ARETHE1 persulfide dioxygenase
Also known as: HSCO, YF13H12
The ETHE1 protein is a sulfur dioxygenase that catalyzes the oxidation of persulfide substrates in the mitochondrial sulfide oxidation pathway, preventing toxic accumulation of hydrogen sulfide that can inhibit cytochrome c oxidase. Mutations cause ethylmalonic encephalopathy, an infantile-onset metabolic disorder affecting the brain, gastrointestinal tract, and peripheral vessels with autosomal recessive inheritance. This gene shows relatively low constraint against loss-of-function variants (pLI near zero, LOEUF 1.46).
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ETHE1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools