Description
Product Characteristics:
Aliases: All-trans-retinyl-palmitate hydrolase antibody, LCA 2 antibody, LCA2 antibody, Leber congenital amaurosis antibody, mRPE 65 antibody, mRPE65 antibody, p63 antibody, rd 12 antibody, rd12 antibody, Retinal pigment epithelium specific 61 kDa protein antibody, Retinal pigment epithelium specific 65 kDa protein antibody, Retinal pigment epithelium specific protein antibody, Retinal pigment epithelium specific protein 65 kDa antibody, Retinal pigment epithelium-specific 65 kDa protein antibody, Retinitis pigmentosa 20 antibody, Retinoid isomerohydrolase antibody, Retinol isomerase antibody, RP 20 antibody, RP20 antibody, RPE 65 antibody, RPE65 antibody, RPE65_HUMAN antibody, sRPE 65 antibody, sRPE65 antibody
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]