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RPE65

Gene

retinoid isomerohydrolase RPE65

HGNCHGNC:10294EnsemblENSG00000116745NCBI Gene6121
Locus: gene with protein productLocation: 1p31.3

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asRP20 · LCA2 · rd12 · BCO3
View full nomenclature history (8)
Previous symbolsRP20
Alias symbolsLCA2, rd12, BCO3
Previous namesretinal pigment epithelium-specific protein 65kDa
Alias namesBCO family, member 3, retinol isomerase, all-trans-retinyl-palmitate hydrolase

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Retinitis Pigmentosa
Leber Congenital Amaurosis
Genetic Diseases, Inborn
Retinal Diseases

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.