Retinal pigment epithelium-specific 65 kDa protein (RPE65) (RPE65)

These enzymes, notably RPE65 and several retinol dehydrogenases, are key components of the retinal visual cycle. RPE65 is an iron-dependent metalloenzyme found in the retinal pigment epithelium; it catalyzes the isomerization and hydrolysis of all-trans-retinyl esters to produce 11-cis-retinol, essential for regenerating the chromophore needed for phototransduction. Retinol dehydrogenases (RDH) catalyze reversible oxidation-reduction between retinol and retinal in the presence of NAD(P)+ cofactors. Defects in these enzymes disrupt visual pigment regeneration, causing severe early-onset retinal dystrophies. Therapies targeting these enzymes (especially RPE65) include gene replacement, while retinoid analogues may modulate RDH activity. Monitoring retinoid metabolites and genetic status is crucial for patient selection and efficacy in therapy. Note: The phrase "Retinal enzyme cofactor" is incorrect or ambiguous as a target name; for structured information, use the particular enzyme (such as RPE65 or a specific RDH) rather than this generic term.

Other names

RPE65Retinol dehydrogenaseRetinal isomeraseRetinoid isomerohydrolase

Restoration or replacement of defective enzyme function (gene therapy for RPE65); Modulation of retinoid metabolism (vitamin A analogs, retinoid cycle inhibitors)