Article
Effect of Leu/Met variation at residue 450 on isomerase activity and protein expression of RPE65 and its modulation by variation at other residues.
Molecular vision - 28 Sept 2007
Redmond T Michael, Weber Charles H, Poliakov Eugenia, Yu Shirley, Gentleman Susan
Abstract excerpt
PURPOSE: RPE65 is the visual cycle retinol isomerase and missense mutations in its gene cause severe retinal dystrophies in man, due to lack of chromophore. While the rate of opsin regeneration in mouse is slower than in man, the methionine (M) variant of mouse RPE65 residue 450 (normally L) is associated with additionally lowered light sensitivity and with resistance to light damage in C57Bl/6 mice, consistent...
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