Retinal Pigment Epithelium-Specific 65 kDa Protein Isomerase (RPE65)

RPE65 is an enzyme located in the retinal pigment epithelium (RPE) that plays a crucial role in the visual cycle. It functions as an isomerohydrolase, converting all-trans-retinyl esters to 11-cis-retinol, a precursor of 11-cis-retinal. 11-cis-retinal is essential for the regeneration of rhodopsin, the light-sensitive pigment in photoreceptor cells. Mutations in RPE65 lead to impaired regeneration of 11-cis-retinal, causing severe visual impairment and inherited retinal diseases like Leber Congenital Amaurosis.

RPE65 catalyzes the conversion of all-trans-retinyl esters to 11-cis-retinol, a crucial step in the visual cycle necessary for regenerating rhodopsin and enabling vision. Inhibiting RPE65 would prevent the regeneration of 11-cis-retinal.