Rpe65 - retinal pigment epithelium 65

Enables retinal isomerase activity. Acts upstream of or within several processes, including cellular response to electrical stimulus; insulin receptor signaling pathway; and retinal metabolic process. Located in cytoplasm; nucleus; and plasma membrane. Is expressed in eye; pelvic urothelial lining; pigmented retinal epithelium; and urothelium of ureter. Used to study Leber congenital amaurosis 2 and retinitis pigmentosa 20. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 2; retinitis pigmentosa; retinitis pigmentosa 20; and retinitis pigmentosa 87. Orthologous to human RPE65 (retinoid isomerohydrolase RPE65). [provided by Alliance of Genome Resources, Apr 2022]