RPE65 : retinoid isomerohydrolase RPE65
Description
The RPE65 (retinoid isomerohydrolase RPE65) is a protein-coding gene located on chromosome 1.
The RPE65 gene provides instructions for creating a protein essential for normal vision. This protein is produced in the retinal pigment epithelium (RPE), a layer of cells at the back of the eye that supports and nourishes the retina. The RPE65 protein is involved in the visual cycle, which converts light into electrical signals. When light hits the retina, it changes 11-cis retinal to all-trans retinal. RPE65 then converts all-trans retinal to 11-cis retinol, enabling the visual cycle to continue.
RPE65 is a crucial enzyme in the visual cycle, responsible for regenerating 11-cis-retinal, the molecule that enables light detection in our eyes. It converts all-trans-retinyl fatty acid esters to 11-cis-retinol, which is further processed into 11-cis-retinal, the chromophore of rod and cone opsins. This process is essential for both rod and cone photoreceptor function. RPE65 also participates in the conversion of lutein to meso-zeaxanthin, a carotenoid found in the eye. The soluble form of RPE65 binds vitamin A, facilitating its conversion to all-trans-retinyl ester, while the membrane form binds all-trans-retinyl esters, making them available for processing into all-cis-retinol. The soluble form is regenerated through a process involving LRAT, transferring palmitoyl groups to 11-cis-retinol. RPE65 interacts with MYO7A, mediating light-dependent intracellular transport of RPE65.
RPE65 is also known as BCO3, LCA2, RP20, mRPE65, p63, rd12, sRPE65.
Associated Diseases
- Leber congenital amaurosis
- Leber congenital amaurosis, type II
- Severe early-childhood-onset retinal dystrophy
- Retinitis pigmentosa 20
- Retinitis pigmentosa 87 with choroidal involvement
- Retinitis pigmentosa
- Fundus albipunctatus
