Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:retinal_pigment_epithelium-specific_protein_65kDa
gptkb:retinal_pigment_epithelium-specific_65_kDa_protein gptkb:retinoid_isomerohydrolase_RPE65 |
| gptkbp:associatedWith |
gptkb:Leber_congenital_amaurosis
retinitis pigmentosa |
| gptkbp:encodes |
gptkb:retinal_pigment_epithelium-specific_65_kDa_protein
|
| gptkbp:expressedIn |
gptkb:retinal_pigment_epithelium
|
| gptkbp:function |
isomerohydrolase activity
|
| gptkbp:HGNC_ID |
10293
|
| https://www.w3.org/2000/01/rdf-schema#label |
RPE65
|
| gptkbp:involvedIn |
visual cycle
|
| gptkbp:locatedOnChromosome |
1p31
|
| gptkbp:mutationAssociatedWith |
autosomal recessive inherited retinal dystrophy
|
| gptkbp:OMIM |
180069
|
| gptkbp:orthologInMouse |
gptkb:Rpe65
|
| gptkbp:target |
gene therapy (voretigene neparvovec)
|
| gptkbp:UniProtID |
Q16518
|
| gptkbp:bfsParent |
gptkb:Luxturna
|
| gptkbp:bfsLayer |
6
|