Protein Variants | Comment | Organism |
---|---|---|
P363T | the mutation is identified in patients with Leber's congenital amaurosis, significantly decreases the stability of the enzyme, alters subcellular localization mainly to the plasma membrane and abolishes its isomerohydrolase activity | Homo sapiens |
Y144D | the mutation is identified in patients with Leber's congenital amaurosis, significantly decreases the stability of the enzyme, alters subcellular localization mainly to the plasma membrane and abolishes its isomerohydrolase activity | Homo sapiens |
General Stability | Organism |
---|---|
RPE65 is a relatively stable protein with a half-life longer than 10 h in the presence of cycloheximide | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
endoplasmic reticulum | - |
Homo sapiens | 5783 | - |
plasma membrane | - |
Homo sapiens | 5886 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
QBI-293A cell | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
Rpe65 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | RPE65 mutations are associated with inherited retinal dystrophies | Homo sapiens |