| GENE NAME | RPE65 |
| CHROMOSOME | 1 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000116745 |
| UNIPROT ACCESSION NUMBER | Q16518 |
| GO MOLECULAR FUNCTION | ['isomerase activity', 'cardiolipin binding', 'phosphatidylcholine binding', 'retinol isomerase activity', 'all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity', 'retinal isomerase activity', 'all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity', 'metal ion binding', 'phosphatidylserine binding', 'oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen'] |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | hsa00830; R-HSA-162582; R-HSA-2187338; R-HSA-2453902; R-HSA-372790; R-HSA-388396; R-HSA-418594 |
| 1 combination linked to RPE65 | OLI1668 |
| 1 variant linked to RPE65 | RPE65:c.394G>A, p.Ala132Thr |
| 1 disease linked to RPE65 | Bardet-Biedl syndrome |