RPE65
retinoid isomerohydrolase RPE65
- Ensembl:
- ENSG00000116745
- UniProt:
- Q16518
- OMIM:
- 180069
- Synonyms:
- BCO3, LCA2, RD12, RP20
Cilia effects upon perturbation of RPE65
Ciliogenesis screen results (3 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.25) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
Phenotypes
- Mouse phenotype:
- abnormal behavior, abnormal pupil morphology, limb grasping, impaired pupillary reflex, increased startle reflex
- Mouse ciliopathy phenotype:
- abnormal reti morphology
- Human ciliopathy phenotype:
- retinitis pigmentosa; Leber congenital amaurosis 2; Leber congenital amaurosis; autosomal recessive retinitis pigmentosa
Ciliopathy associations
- Leber Congenital Amaurosis
- Retinal Dystrophy/Degeneration
Subcellular localization
cilia associated gene
Functional category
- Ciliary assembly/disassembly
Function
Mutations in the RPE65 gene cause Retinitis Pigmentosa and Leber Congenital Amaurosis (PMID: 21654732, 9501220, 12960219, 14962443).