retinoid isomerohydrolase RPE65
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:associated_with_therapy |
gptkb:voretigene_neparvovec
|
| gptkbp:EC_number |
5.2.1.7
|
| gptkbp:foundIn |
gptkb:retinal_pigment_epithelium
|
| gptkbp:function |
isomerohydrolase activity
catalyzes conversion of all-trans-retinyl esters to 11-cis-retinol |
| gptkbp:gene |
gptkb:RPE65
|
| https://www.w3.org/2000/01/rdf-schema#label |
retinoid isomerohydrolase RPE65
|
| gptkbp:involves |
visual cycle
|
| gptkbp:length |
533
|
| gptkbp:locatedOnChromosome |
1p31
|
| gptkbp:molecularWeight |
61 kDa
|
| gptkbp:mutationAssociatedWith |
gptkb:Leber_congenital_amaurosis
retinitis pigmentosa |
| gptkbp:OMIM |
180069
|
| gptkbp:orthologInMouse |
gptkb:Rpe65
|
| gptkbp:PDB |
4F2Z
|
| gptkbp:subcellularLocation |
gptkb:endoplasmic_reticulum
gptkb:cytoplasm |
| gptkbp:UniProtID |
Q16518
|
| gptkbp:bfsParent |
gptkb:RPE65
gptkb:RPE65_gene |
| gptkbp:bfsLayer |
7
|