AlphaFold predicted structure
RPE65 · Q16518
Mean pLDDT
95.4/ 100
Very high
533 residues
Confidence breakdown
- Very high(≥ 90)92%
- Confident(70–90)4%
- Low(50–70)2%
- Very low(< 50)2%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
RPE65
Chr 1p31.3retinoid isomerohydrolase RPE65
- Aliases:
- LCA2, rd12, BCO3
- MANE:
- ENST00000262340.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalGlaucoma (developmental)
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalOphthalmological ciliopathies
Primary ciliary disorders
Rare multisystem ciliopathy disorders
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Disease associations (Open Targets)
retinitis pigmentosa
0.83Leber congenital amaurosis 2
0.82Leber congenital amaurosis
0.76Retinal dystrophy
0.69RPE65-related recessive retinopathy
0.68retinitis pigmentosa 87 with choroidal involvement
0.65autosomal recessive retinitis pigmentosa
0.51hereditary disease
0.51Stargardt disease
0.44retinal disorder
0.42
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Retinoid isomerohydrolase
Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins. Catalyzes the cleavage and isomerization of all-trans-retinyl fatty acid esters to 11-cis-retinol which is further oxidized by 11-cis retinol dehydrogenase to 11-cis-retinal for use as visual chromophore (PubMed:16116091). Essential for the production of 11-cis retinal for both rod and cone photoreceptors (PubMed:17848510). Also capable of catalyzing the isomerization of lutein to meso-zeaxanthin an eye-specific carotenoid (PubMed:28874556). The soluble form binds vitamin A (all-trans-retinol), making it available for LRAT processing to all-trans-retinyl ester. The membrane form, palmitoylated by LRAT, binds all-trans-retinyl esters, making them available for IMH (isomerohydrolase) processing to all-cis-retinol. The soluble form is regenerated by transferring its palmitoyl groups onto 11-cis-retinol, a reaction catalyzed by LRAT (By similarity)
Diseases associated with RPE65
Curated MONDO disease pages that list RPE65 among their top associated genes.