RPE65

Retinal pigment epithelium-specific 65 kDa protein is a is_associated_with::protein that in humans is encoded by the RPE65 is_associated_with::gene.

Function
The retinal pigment epithelium-specific 65 kDa protein is located in the retinal pigment epithelium and is involved in the conversion of all-trans is_associated_with::retinol to 11-cis is_associated_with::retinal during is_associated_with::phototransduction, which is then used in visual pigment regeneration in is_associated_with::photoreceptor cells.

Clinical significance
Mutations in this gene have been associated with is_associated_with::Leber's congenital amaurosis type 2 (LCA2) and is_associated_with::retinitis pigmentosa.