Characterization of RPE65 and RDH12, two enzymes associated with retinal dystrophy and retinoid processing

TL;DRAbstract

Phototransduction in vertebrate vision is mediated by visual pigments composed of opsin apoproteins covalently attached to a light-sensitive chromophore, 11-cis retinal. Absorption of light isomerizes 11-cis retinal to all-trans retinal, initiating a signal transduction cascade. A complex set of enzyme reactions occurring in the retinal pigment epithelium and the retina is responsible for the synthesis and regeneration of the chromophore and is termed the visual cycle. Several forms of inherited retinal degeneration and dysfunction manifest as a result of mutations in the genes associated with visual cycle function, such as RPE65 and RDH12. RPE65 is essential for the synthesis of 11-cis retinal and was recently confirmed to function as the visual cycle isomerase. Cone photoreceptors have been proposed to possess an exclusive chromophore regenerative pathway. Using a monoclonal antibody approach, we have now mapped antigenic determinants of the protein surface, shown that RPE65 is not e

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