Application | Comment | Organism |
---|---|---|
medicine | the combined oral treatment with metronidazole and N-acetylcysteine is an effective therapy for ethylmalonic encephalopathy which is caused by mutations in the mitochondrial matrix sulfur dioxygenase ETHE1 | Mus musculus |
medicine | the combined oral treatment with metronidazole and N-acetylcysteine is an effective therapy for ethylmalonic encephalopathy which is caused by mutations in the mitochondrial matrix sulfur dioxygenase ETHE1 | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
L55P | the mutation is associated with ethylmalonic encephalopathy | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrial matrix | - |
Mus musculus | 5759 | - |
mitochondrial matrix | - |
Homo sapiens | 5759 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Mus musculus | - |
- |
- |
Synonyms | Comment | Organism |
---|---|---|
ETHE1 | - |
Mus musculus |
ETHE1 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | ethylmalonic encephalopathy is caused by mutations in the mitochondrial matrix sulfur dioxygenase ETHE1 leading to failure to detoxify sulfide, a product of intestinal anaerobes and, in trace amounts, tissues | Mus musculus |
malfunction | ethylmalonic encephalopathy is caused by mutations in the mitochondrial matrix sulfur dioxygenase ETHE1 leading to failure to detoxify sulfide, a product of intestinal anaerobes and, in trace amounts, tissues | Homo sapiens |