ETHE1 Chromosome 19
ETHE1 persulfide dioxygenase
Upload your DNA to see your personal genotypes for variants in ETHE1.
What This Gene Does
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]
Gene Info
Gene Group
MBL domain containing glyoxalase 2 subfamily
Locus Type
gene with protein product
Location
19q13.31
Ensembl
ENSG00000105755
Associated Conditions (4)
Ethylmalonic encephalopathy
Inborn genetic diseases
ETHE1-related disorder
Abnormality of the nervous system
Key Variants
RS1008232313
Conflicting classifications of pathogenicity
Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
Health Risk
RS1182285073
Conflicting classifications of pathogenicity
Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
Health Risk
RS138958351
Conflicting classifications of pathogenicity
Ethylmalonic encephalopathy, Inborn genetic diseases, ETHE1-related disorder
Health Risk
RS1599982861
Conflicting classifications of pathogenicity
Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
Health Risk
RS267605525
Conflicting classifications of pathogenicity
Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
Health Risk
RS370182416
Conflicting classifications of pathogenicity
Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
Health Risk
RS533076307
Conflicting classifications of pathogenicity
Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
Health Risk
RS540383420
Conflicting classifications of pathogenicity
Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
Health Risk
RS759810296
Conflicting classifications of pathogenicity
Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
Health Risk
RS773937760
Conflicting classifications of pathogenicity
Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
Health Risk
RS863223956
Conflicting classifications of pathogenicity
Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
Health Risk
RS1284200516
Likely pathogenic
Ethylmalonic encephalopathy, Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
Health Risk
All Variants (79)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1600019095 | Health Risk | Pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS2145977281 | Health Risk | Pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS2145977394 | Health Risk | Pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS2145984865 | Health Risk | Pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS2146018812 | Health Risk | Pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS2146019063 | Health Risk | Pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS2146019689 | Health Risk | Pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS2513605758 | Health Risk | Pathogenic | — |
| RS2513609504 | Health Risk | Pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS2513609510 | Health Risk | Pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS2513609656 | Health Risk | Pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS2513609768 | Health Risk | Pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS2513629530 | Health Risk | Pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS2513629589 | Health Risk | Pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS2513631633 | Health Risk | Pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS2513631693 | Health Risk | Pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS2513631762 | Health Risk | Pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS2513631822 | Health Risk | Pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS28940289 | Health Risk | Pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS387906987 | Health Risk | Pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS761827730 | Health Risk | Pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS863223955 | Health Risk | Pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS935855792 | Health Risk | Pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS1487930609 | Health Risk | Pathogenic/Likely pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS2146021370 | Health Risk | Pathogenic/Likely pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS2513603665 | Health Risk | Pathogenic/Likely pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS368778231 | Health Risk | Pathogenic/Likely pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS749803238 | Health Risk | Pathogenic/Likely pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS769259233 | Health Risk | Pathogenic/Likely pathogenic | Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |