RPE65

Retinal pigment epithelium-specific protein 65kDa
Identifiers
Symbols	RPE65 ; LCA2; RP20; mRPE65; rd12; sRPE65
External IDs	Template:OMIM5 Template:MGI HomoloGene: 20108
Gene ontology Molecular function Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE RPE65 207107 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Retinal pigment epithelium-specific protein 65kDa, also known as RPE65, is a human gene.

This gene encodes a protein which is located in the retinal pigment epithelium and is involved in the conversion of all-trans retinol to 11-cis retinal, which is then used in visual pigment regeneration in photoreceptor cells. 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.

Further reading

• Koenekoop RK, Lopez I, den Hollander AI; et al. (2007). "Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions". Clin. Experiment. Ophthalmol. 35 (5): 473–85. doi:10.1111/j.1442-9071.2007.01534.x. PMID 17651254.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Båvik CO, Busch C, Eriksson U (1992). "Characterization of a plasma retinol-binding protein membrane receptor expressed in the retinal pigment epithelium". J. Biol. Chem. 267 (32): 23035–42. PMID 1331074.CS1 maint: Multiple names: authors list (link)
• Nicoletti A, Wong DJ, Kawase K; et al. (1995). "Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium". Hum. Mol. Genet. 4 (4): 641–9. PMID 7633413.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hamel CP, Jenkins NA, Gilbert DJ; et al. (1994). "The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3". Genomics. 20 (3): 509–12. doi:10.1006/geno.1994.1212. PMID 8034329.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hamel CP, Tsilou E, Pfeffer BA; et al. (1993). "Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro". J. Biol. Chem. 268 (21): 15751–7. PMID 8340400.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hamel CP, Tsilou E, Harris E; et al. (1993). "A developmentally regulated microsomal protein specific for the pigment epithelium of the vertebrate retina". J. Neurosci. Res. 34 (4): 414–25. doi:10.1002/jnr.490340406. PMID 8474143.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Marlhens F, Bareil C, Griffoin JM; et al. (1997). "Mutations in RPE65 cause Leber's congenital amaurosis". Nat. Genet. 17 (2): 139–41. doi:10.1038/ng1097-139. PMID 9326927.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gu SM, Thompson DA, Srikumari CR; et al. (1997). "Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy". Nat. Genet. 17 (2): 194–7. doi:10.1038/ng1097-194. PMID 9326941.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Tsilou E, Hamel CP, Yu S, Redmond TM (1997). "RPE65, the major retinal pigment epithelium microsomal membrane protein, associates with phospholipid liposomes". Arch. Biochem. Biophys. 346 (1): 21–7. doi:10.1006/abbi.1997.0276. PMID 9328280.CS1 maint: Multiple names: authors list (link)
• Morimura H, Fishman GA, Grover SA; et al. (1998). "Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis". Proc. Natl. Acad. Sci. U.S.A. 95 (6): 3088–93. PMID 9501220.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nicoletti A, Kawase K, Thompson DA (1998). "Promoter analysis of RPE65, the gene encoding a 61-kDa retinal pigment epithelium-specific protein". Invest. Ophthalmol. Vis. Sci. 39 (3): 637–44. PMID 9501877.CS1 maint: Multiple names: authors list (link)
• Marlhens F, Griffoin JM, Bareil C; et al. (1999). "Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene". Eur. J. Hum. Genet. 6 (5): 527–31. doi:10.1038/sj.ejhg.5200205. PMID 9801879.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ma JX, Zhang D, Laser M; et al. (1999). "Identification of RPE65 in transformed kidney cells". FEBS Lett. 452 (3): 199–204. PMID 10386590.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lotery AJ, Namperumalsamy P, Jacobson SG; et al. (2000). "Mutation analysis of 3 genes in patients with Leber congenital amaurosis". Arch. Ophthalmol. 118 (4): 538–43. PMID 10766140.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Simovich MJ, Miller B, Ezzeldin H; et al. (2001). "Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis". Hum. Mutat. 18 (2): 164. doi:10.1002/humu.1168. PMID 11462243.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Thompson DA, McHenry CL, Li Y; et al. (2002). "Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively". Am. J. Hum. Genet. 70 (1): 224–9. PMID 11727200.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Felius J, Thompson DA, Khan NW; et al. (2002). "Clinical course and visual function in a family with mutations in the RPE65 gene". Arch. Ophthalmol. 120 (1): 55–61. PMID 11786058.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Joseph B, Srinivasan A, Soumittra N; et al. (2002). "RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases". J. Genet. 81 (1): 19–23. PMID 12357075.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yzer S, van den Born LI, Schuil J; et al. (2003). "A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population". J. Med. Genet. 40 (9): 709–13. PMID 12960219.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)