| Entrez gene ID | | 6121 |
| Official gene symbol | | RPE65 |
| Full name | | retinal pigment epithelium-specific protein 65kDa |
| Aliases | | ,LCA2,RP20,mRPE65,rd12,sRPE65, |
| 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] |
| Location | | Chromosome: 1 Locus: 1p31 |
| Gene position | | 68915642 - 68894507 Map Viewer |
| Gene orientation | | minus |
| Gene size | | 21136 bp |
| Gene sequence |
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| OMIM ID | | 180069 |
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