Synonyms: All-trans-retinyl-palmitate hydrolase,LCA 2,LCA2,Leber congenital amaurosis ,mRPE 65,mRPE65,p63,rd 12,rd12,Retinal pigment epithelium specific 61 kDa protein,Retinal pigment epithelium specific 65 kDa protein,Retinal pigment epithelium specific protein ,Retinal pigment epithelium specific protein 65 kDa,Retinal pigment epithelium-specific 65 kDa protein,Retinitis pigmentosa 20 ,Retinoid isomerohydrolase,Retinol isomerase,RP 20,RP20,RPE 65,RPE65,RPE65,sRPE 65,sRPE65
Background: This gene encodes a protein which is located in the retinal pigment epithelium and is involved in the production of 11-cis retinal and in visual pigment regeneration. There are two forms of this protein, a soluble form called sRPE65, and a palmitoylated, membrane-bound form known as mRPE65. mRPE65 serves as the palmitoyl donor for lecithin retinol acyl transferase (LRAT), the enzyme that catalyzes the vitamin A to all trans retinol step of the chromophore regeneration process. Both mRPE65 and sRPE65 also serve as regulatory proteins, with the ratio and concentrations of these molecules playing a role in the inhibition of 11-cis retinal synthesis. Mutations in this gene have been associated with Leber congenital amaurosis type 2 (LCA2) and retinitis pigmentosa.