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Immunoprecipitation

Entrez GeneID

Gene Name

RPE65

Gene Alias

LCA2, RP20, mRPE65, rd12, sRPE65

Gene Description

retinal pigment epithelium-specific protein 65kDa

Omim ID

Gene Ontology

Gene 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

Other Designations

OTTHUMP00000010788|RBP-binding membrane protein|p63|retinal pigment epithelium-specific 61 kDa protein|retinal pigment epithelium-specific protein (65kD)|retinitis pigmentosa 20 (autosomal recessive)