Target intelligence / Profile preview

Retinal Pigment Epithelium Protein 65 (None)

Target
None
Molecular classification
Enzyme, Carotenoid cleavage oxygenase superfamily, Retinoid Isomerohydrolase
01

Overview

RPE65 (Retinal pigment epithelium-specific 65 kDa protein) is a critical enzyme in the vertebrate visual cycle, specifically expressed in the retinal pigment epithelium (RPE). It catalyzes a key step in the visual cycle: it converts all-trans-retinyl esters to 11-cis-retinol, which is then further processed to regenerate 11-cis-retinal, the chromophore required by rod and cone opsins for phototransduction. Mutations in *RPE65* cause severe inherited retinal dystrophies like Leber congenital amaurosis type 2 (LCA2) and Retinitis pigmentosa type 20.

02

Mechanism of action

Converts all-trans-retinyl esters to 11-cis-retinol

03

Biological functions

Visual CycleVisual PhototransductionRegeneration of 11-cis-retinal chromophore for opsin pigments
04

Disease associations

Leber congenital amaurosis type 2 (LCA2)Retinitis pigmentosa type 20

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