RPE65
retinal pigment epithelium-specific protein 65kDa
- Human(6121) Summary: 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]
- Mouse(19892) retinal pigment epithelium 65
- Rat(89826) retinal pigment epithelium 65
- naked mole-rat(101716560) retinal pigment epithelium-specific protein 65kDa
- domestic guinea pig(100721944) retinal pigment epithelium-specific protein 65kDa
- chicken(395700) retinal pigment epithelium-specific protein 65kDa
- domestic cat(101090034) retinal pigment epithelium-specific protein 65kDa
- Domestic Rabbit(100352270) retinal pigment epithelium-specific protein 65kDa
- sheep(101116520) retinal pigment epithelium-specific protein 65kDa
- cow(282043) retinal pigment epithelium-specific protein 65kDa
- dog(403803) retinal pigment epithelium-specific protein 65kDa
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