Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:isomerohydrolase_RPE65
gptkb:retinal_pigment_epithelium-specific_65_kDa_protein |
| gptkbp:approvedTherapy |
gptkb:voretigene_neparvovec
|
| gptkbp:associatedWith |
gptkb:Leber_congenital_amaurosis
retinitis pigmentosa |
| gptkbp:discoveredBy |
gptkb:T._Michael_Redmond
|
| gptkbp:encodes |
gptkb:retinoid_isomerohydrolase_RPE65
|
| gptkbp:Entrez_Gene_ID |
6121
|
| gptkbp:expressedIn |
gptkb:retinal_pigment_epithelium
|
| gptkbp:function |
visual cycle
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:10293
|
| https://www.w3.org/2000/01/rdf-schema#label |
RPE65 gene
|
| gptkbp:locatedOnChromosome |
chromosome 1
1p31 |
| gptkbp:mutationAssociatedWith |
early-onset severe retinal dystrophy
|
| gptkbp:OMIM |
180069
|
| gptkbp:orthologInMouse |
gptkb:Rpe65
|
| gptkbp:target |
gene therapy
|
| gptkbp:UniProtID |
Q16518
|
| gptkbp:bfsParent |
gptkb:Leber_congenital_amaurosis
|
| gptkbp:bfsLayer |
6
|