RPE65 is a major protein of the retinal pigment epithelium (RPE). RPE65 is essential for the regeneration of rhodopsin in the visual cycle. Mutations in RPE65 are responsible for certain forms of autosomal recessive severe retinal dystrophy, including Leber Congenital Amaurosis (LCA). Loss of function results in a block in retinoid processing required for the synthesis of 11-cis retinal and the accumulation of retinyl esters in the RPE.
蛋白别名: All-trans-retinyl-palmitate hydrolase; BCO family, member 3; Lutein isomerase; Meso-zeaxanthin isomerase; modifier of retinal degeneration 1; p63; RBP-binding membrane protein; retinal pigment epithelium 65-like; retinal pigment epithelium abundant protein RPE65; retinal pigment epithelium specific protein 65; retinal pigment epithelium, 65 kDa; Retinal pigment epithelium-specific 65 kDa protein; retinal pigment epithelium-specific 65kD protein; retinal pigment epithelium-specific protein (65kD); retinal pigment epithelium-specific protein 65kDa; Retinitis pigmentos; retinitis pigmentosa 20 (autosomal recessive); Retinoid isomerohydrolase; Retinol isomerase; RPE65; rpe65 gene for retinal pigment epithelium-specific protein; RPE65, retinoid isomerohydrolase; truncated RPE65
基因别名: 65kDa; A930029L06Rik; BCO3; LCA2; Mord1; mRPE65; rd12; RP20; RPE65; sRPE65