Identity
HGNC
LOCATION
1p31.3
LOCUSID
ALIAS
BCO3,LCA2,RP20,mRPE65,p63,rd12,sRPE65
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6121
MIM: 180069
HGNC: 10294
Ensembl: ENSG00000116745
Variants:
dbSNP: 6121
ClinVar: 6121
TCGA: ENSG00000116745
COSMIC: RPE65
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000116745 | ENST00000262340 | Q16518 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38508214 | 2024 | RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec. | 0 |
| 38508214 | 2024 | RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec. | 0 |
| 36950921 | 2023 | Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee. | 1 |
| 37547722 | 2023 | Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants. | 0 |
| 36950921 | 2023 | Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee. | 1 |
| 37547722 | 2023 | Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants. | 0 |
| 33838313 | 2022 | Perifoveal Chorioretinal Atrophy after Subretinal Voretigene Neparvovec-rzyl for RPE65-Mediated Leber Congenital Amaurosis. | 38 |
| 35098484 | 2022 | Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review. | 13 |
| 35129589 | 2022 | RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study. | 8 |
| 35726567 | 2022 | Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations. | 5 |
| 36017377 | 2022 | Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy. | 1 |
| 36429068 | 2022 | The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner. | 3 |
| 33838313 | 2022 | Perifoveal Chorioretinal Atrophy after Subretinal Voretigene Neparvovec-rzyl for RPE65-Mediated Leber Congenital Amaurosis. | 38 |
| 35098484 | 2022 | Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review. | 13 |
| 35129589 | 2022 | RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study. | 8 |
Citation
Dessen P
RPE65 (retinoid isomerohydrolase RPE65)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72778/rpe65-(retinoid-isomerohydrolase-rpe65)
