Application | Comment | Organism |
---|---|---|
medicine | identification of mutations R217C and DELTA197-268 in female patients with microphthalmia with linear skin defects syndrome. In contrast to wild-type, mutant proteins are unable to complement a Saccharomyces cerevisiae mutant deficient in the yeast enzyme ortholog. Mutation results in disturbance of both oxidative phosphorylation and the balance between apoptosis and necrosis. Upon expression in CHO-K1 cells, mutant DELTA197-268 protein fails to be sorted to mitochondria | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
DELTA197-268 | mutation identified in female patient with microphthalmia with linear skin defects syndrome. In contrast to wild-type, mutant protein is unable to complement a Saccharomyces cerevisiae mutant deficient in the yeast enzyme ortholog. Upon expression in CHO-K1 cells, mutant protein fails to be sorted to mitochondria. Mutation results in disturbance of both oxidative phosphorylation and the balance between apoptosis and necrosis | Homo sapiens |
R217C | mutation identified in female patient with microphthalmia with linear skin defects syndrome. In contrast to wild-type, mutant protein is unable to complement a Saccharomyces cerevisiae mutant deficient in the yeast enzyme ortholog. Mutation results in disturbance of both oxidative phosphorylation and the balance between apoptosis and necrosis | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Homo sapiens | 5739 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
female patients with microphthalmia with linear skin defects syndrome, i.e. MLS or MIDAS | - |
Synonyms | Comment | Organism |
---|---|---|
HCCS | - |
Homo sapiens |