Application | Comment | Organism |
---|---|---|
medicine | mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive disorder characterized by ptosis and progressive external ophthalmoplegia, peripheral neuropathy, severe gastrointestinal dysmotility, cachexia and leukoencephalopathy, morphologically abnormal mitochondria and defects of respiratory chain enzymes. Patients harbor depletion, multiple deletions, and point mutations of mitochondrial DNA. This disorder is caused by loss-offunction mutations in the gene encoding thymidine phosphorylase. In patients with mitochondrial neurogastrointestinal encephalomyopathy, thymidine phosphorylase activity is very low or absent resulting in dramatically elevated levels of plasma thymidine and deoxyuridine. It is hypothesized that the increased levels of thymidine and deoxyuridine cause mitochondrial nucleotide pool imbalances that, in turn, generate mtDNA alterations | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
cytosol | - |
Homo sapiens | 5829 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P19971 | - |
- |