Gene · 6121
RPE65: retinoid isomerohydrolase RPE65
12 sourcesgene-search-2026-11-11-0.2.0
Cite this record
ConductScience Library. RPE65: retinoid isomerohydrolase RPE65. Genes, record 6121. Release gene-search-2026-11-11-0.2.0, 11 Nov 2026. https://conductscience.org/library/genes/6121
On this page
Gene
Proteins1
Reviewed human proteins whose Swiss-Prot entry states the gene.
| UniProt entry | Protein | Length | Structures | Gene stated in |
|---|---|---|---|---|
| Q16518 | Retinoid isomerohydrolase | 533 | 0 | Ensembl, GeneID, HGNC |
Source UniProt
Patents85
Patents whose sequence listing contains this protein's exact sequence. A patent can list a sequence without claiming it.
| Publication | Published | SEQ ID NO | Protein | Source |
|---|---|---|---|---|
| EP 4821560 A2 | 2026-10-14 | 12 | Q16518 | Espacenet |
| JP 2026515744 A | 2026-05-19 | 32 | Q16518 | Espacenet |
| JP 2026004568 A | 2026-01-14 | 61458 | Q16518 | Espacenet |
| EP 4667578 A2 | 2025-12-24 | 307 | Q16518 | Espacenet |
| EP 4641201 A2 | 2025-10-29 | 1619 | Q16518 | Espacenet |
| JP 2025131621 A | 2025-09-09 | 307 | Q16518 | Espacenet |
| JP 2025517969 A | 2025-06-12 | 1619 | Q16518 | Espacenet |
| US 12310997 B2 | 2025-05-27 | 12 | Q16518 | Espacenet |
| US 12275959 B2 | 2025-04-15 | 15 | Q16518 | Espacenet |
| JP 2025039615 A | 2025-03-21 | 12 | Q16518 | Espacenet |
1 to 10 of 85
See all 85 patentsDrugs3
Drugs a ChEMBL mechanism record says act on the gene's protein, through Open Targets.
Trials10
Trials of those drugs. A trial joins the gene only through a drug that acts on it.
| Trial | Drug | Phase | Results first posted | Source |
|---|---|---|---|---|
| NCT03772665 | EMIXUSTAT HYDROCHLORIDE | PHASE3 | 2023-08-03 | ClinicalTrials.gov |
| NCT03597399 | VORETIGENE NEPARVOVEC | ClinicalTrials.gov | ||
| NCT03033108 | EMIXUSTAT HYDROCHLORIDE | PHASE2 | 2021-04-27 | ClinicalTrials.gov |
| NCT02753400 | EMIXUSTAT HYDROCHLORIDE | PHASE2 | 2021-04-27 | ClinicalTrials.gov |
| NCT02130531 | EMIXUSTAT HYDROCHLORIDE | PHASE1 | ClinicalTrials.gov | |
| NCT01802866 | EMIXUSTAT HYDROCHLORIDE | PHASE2/PHASE3 | ClinicalTrials.gov | |
| NCT01208389 | VORETIGENE NEPARVOVEC | PHASE1/PHASE2 | ClinicalTrials.gov | |
| NCT01002950 | EMIXUSTAT | PHASE2 | ClinicalTrials.gov | |
| NCT00999609 | VORETIGENE NEPARVOVEC | PHASE3 | 2018-03-26 | ClinicalTrials.gov |
| NCT00516477 | VORETIGENE NEPARVOVEC | PHASE1 | ClinicalTrials.gov |
NIH grants1,510
NIH grants whose papers are about the gene, through NIH's grant-paper links.
| Grant | Title | RPE65 papers | Newest fiscal year |
|---|---|---|---|
| R01EY009339 | Retinoids in Vision | 57 | 2025 |
| ZIAEY000260 | Molecular Biology Of Outer Retina-specific Proteins | 35 | 2025 |
| P30EY011373 | CWRU NEI Vision Center Core Grant | 34 | 2025 |
| R01EY018213 | Defining Barriers to Gene Therapy | 32 | 2025 |
| P30EY001583 | P30 Core Grant For Vision Research | 28 | 2025 |
| R01EY006855 | Models for Therapy of Hereditary Retinal Degeneration | 23 | 2025 |
| P30EY014800 | University of Utah Core Vision Research Grant | 22 | 2025 |
| P30CA013696 | Cancer Center Support Grant | 21 | 2025 |
| R01EY024698 | Gene Editing and Silencing in Phototransduction | 20 | 2025 |
| P30EY010572 | Ophthalmology Core Facility | 18 | 2025 |
1 to 10 of 1,510Source NIH's project files
See all 1,510 nih grantsPapers3,325
Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.
| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Sustained improvement in dark-adapted sensitivity but not BCVA after voretigene neparvovec treatment in a mainland Chinese child with biallelic RPE65-associated LCA2: a case report. | Front Pharmacol | 2026 | 42755963 | PubTator, text mining | PubMed |
| Progress in gene therapy for RPGR-associated X-linked retinitis pigmentosa. | Expert Opin Biol Ther | 2026 | 42733973 | PubTator, text mining | PubMed |
| Delayed foveal atrophy following early visual improvement after voretigene neparvovec gene therapy in a child. | Eye (Lond) | 2026 | 42693233 | PubTator, text mining | PubMed |
| Voretigene Neparvovec (Luxturna) for Biallelic RPE65-Associated Retinal Dystrophy: Systematic Review. | Am J Ophthalmol | 2026 | 42674265 | PubTator, text mining | PubMed |
| Gene therapy clinical trials for inherited eye diseases: The pediatric perspective. | Eur J Ophthalmol | 2026 | 42627399 | PubTator, text mining | PubMed |
| Reverse amblyopia following gene therapy-induced visual improvement in a child with retinal pigment epithelium-65 inherited retinal dystrophy. | BMJ Case Rep | 2026 | 42624634 | PubTator, text mining | PubMed |
| Personalized Pathogenicity Assessment of RPE65 Gene Mutations Using Patient-Specific hiPSC-Derived Retinal Pigment Epithelium Model. | Int J Mol Sci | 2026 | 42449920 | PubTator, text mining | PubMed |
| Congenital stationary night blindness with a fundus albipunctatus-like yellow-dotted retina associated with compound heterozygous RPE65 variants: A case report. | Retin Cases Brief Rep | 2026 | 42447353 | PubTator, text mining | PubMed |
| Post-approval outcomes of voretigene neparvovec (Luxturna®) retinal gene therapy: A systematic review and meta-analysis. | Surv Ophthalmol | 2026 | 42425207 | PubTator, text mining | PubMed |
| Clinical and genetic characteristics of RPE65-associated inherited retinal degeneration in Koreans. | Sci Rep | 2026 | 42365082 | PubTator, text mining | PubMed |
1 to 10 of 3,325
See all 3,325 papersSources 12
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
- GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
- HGNCCC0
- NCBI GenePublic domain (US government)
- NIH's project files and grant-paper linksPublic domain
- Open TargetsCC0 1.0
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
- GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
- HGNCCC0: https://www.genenames.org/about/license/
- NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
- NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
Read this gene from software.
The record and each of its lists are JSON, twenty rows a page. No key.
GET https://conductscience.org/api/genes/v1/6121
GET https://conductscience.org/api/genes/v1/6121/patents?page=2