Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:enzyme
|
| gptkbp:alsoKnownAs |
gptkb:RPE65
gptkb:retinal_pigment_epithelium-specific_65_kDa_protein |
| gptkbp:EC_number |
5.2.1.12
|
| gptkbp:encodedBy |
gptkb:RPE65_gene
|
| gptkbp:foundIn |
gptkb:retinal_pigment_epithelium
|
| gptkbp:function |
catalyzes the conversion of all-trans-retinyl esters to 11-cis-retinol
|
| https://www.w3.org/2000/01/rdf-schema#label |
isomerohydrolase RPE65
|
| gptkbp:involvedIn |
visual cycle
|
| gptkbp:locatedOnChromosome |
1p31
|
| gptkbp:molecularWeight |
65 kDa
|
| gptkbp:mutationAssociatedWith |
gptkb:Leber_congenital_amaurosis
retinitis pigmentosa |
| gptkbp:OMIM |
180069
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:structure |
contains iron-binding sites
|
| gptkbp:UniProtID |
Q16518
|
| gptkbp:usedIn |
gene therapy for inherited retinal diseases
|
| gptkbp:bfsParent |
gptkb:RPE65_gene
|
| gptkbp:bfsLayer |
7
|