retinal pigment epithelium-specific protein 65kDa
GPTKB entity
Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alternativeName |
retinoid isomerohydrolase
RPE65 protein |
| gptkbp:foundIn |
gptkb:retinal_pigment_epithelium
|
| gptkbp:function |
visual cycle
isomerohydrolase activity |
| gptkbp:gene |
gptkb:RPE65
|
| https://www.w3.org/2000/01/rdf-schema#label |
retinal pigment epithelium-specific protein 65kDa
|
| gptkbp:locatedOnChromosome |
1p31
|
| gptkbp:molecularWeight |
65 kDa
|
| gptkbp:mutationAssociatedWith |
gptkb:Leber_congenital_amaurosis
retinitis pigmentosa |
| gptkbp:OMIM |
180069
|
| gptkbp:participatedIn |
visual perception
retinoid metabolism |
| gptkbp:target_of_gene_therapy |
gptkb:voretigene_neparvovec
|
| gptkbp:UniProtID |
Q16518
|
| gptkbp:bfsParent |
gptkb:RPE65
|
| gptkbp:bfsLayer |
7
|