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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for RPE65 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID6121
Official gene symbolRPE65
Full nameretinal pigment epithelium-specific protein 65kDa
Aliases,LCA2,RP20,mRPE65,rd12,sRPE65,
Gene summaryThis 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]
LocationChromosome: 1   Locus: 1p31
Gene position68915642 - 68894507  Map Viewer
Gene orientationminus
Gene size21136 bp
Gene sequence
OMIM ID180069