Target intelligence / Profile preview

Retinal pigment epithelium-specific 65 kDa protein (RPE65)

Target
RPE65
Molecular classification
Enzyme, Retinoid isomerohydrolase, Carotenoid oxygenase superfamily
01

Overview

Retinal pigment epithelium-specific 65 kDa protein (RPE65) is a critical enzyme in the vertebrate visual cycle, primarily expressed in the retinal pigment epithelium (RPE). It functions as a retinoid isomerohydrolase, catalyzing the conversion of all-trans-retinyl esters to 11-cis-retinol, which is essential for regenerating visual pigments after light exposure. Mutations in RPE65 are linked to inherited retinal diseases like Leber congenital amaurosis type 2 (LCA2) and retinitis pigmentosa.

02

Mechanism of action

RPE65 catalyzes the conversion of all-trans-retinyl esters to 11-cis-retinol, a crucial step in regenerating visual pigments for light detection.

03

Biological functions

Retinoid metabolismVisual cyclePhototransductionRegeneration of visual pigments
04

Disease associations

Leber congenital amaurosis type 2 (LCA2)Retinitis pigmentosa

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