Description
Product Characteristics:
The retinal pigment epithelium (RPE) is a monolayer simple epithelium in proximity to the outer surface of the retinal photoreceptor cells. Retinal pigment epithelium-specific protein (RPE65) is a 65 kDa protein belonging to the _-carotene dioxygenase family. This protein is important in 11-cis retinal production as well as in visual pigment regeneration. RPE65 is attached to the membrane by a lipid anchor when palmitoylated (membrane form) and soluble when unpalmitoylated. The soluble form of the protein binds vitamin A. Defects in RPE65 causes autosomal dominant retinitis pigmentosa and/or Leber congenital amaurosis type 2.
Synonyms: All-trans-retinyl-palmitate hydrolase, LCA 2, LCA2, Leber congenital amaurosis, mRPE 65, mRPE65, p63, rd 12, rd12, Retinal pigment epithelium specic 61 kDa protein, Retinal pigment epithelium specic 65 kDa protein, Retinal pigment epithelium specic protein, Retinal pigment epithelium specic protein 65 kDa, Retinal pigment epithelium-specic 65 kDa protein, Retinitis pigmentosa 20, Retinoid isomerohydrolase, RP 20, RP20, RPE 65, RPE65, RPE65_HUMAN, sRPE 65, sRPE65.
Target Information: 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. [provided by RefSeq, Jul 2008]