RPE65
From Wikipedia, the free encyclopedia
Retinal pigment epithelium-specific 65 kDa protein is a protein that in humans is encoded by the RPE65 gene.[1][2]
Function
The retinal pigment epithelium-specific 65 kDa protein is located in the retinal pigment epithelium and is involved in the conversion of all-trans retinol to 11-cis retinal during phototransduction, which is then used in visual pigment regeneration in photoreceptor cells.
Clinical significance
Mutations in this gene have been associated with Leber's congenital amaurosis type 2 (LCA2) and retinitis pigmentosa.[2][3]
See also
- The Visual Cycle
References
- ↑ Hamel CP, Tsilou E, Pfeffer BA, Hooks JJ, Detrick B, Redmond TM (Aug 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.
- ↑ 2.0 2.1 "Entrez Gene: RPE65 retinal pigment epithelium-specific protein 65kDa".
- ↑ Bowne, SJ; Humphries, MM, Sullivan, LS, Kenna, PF, Tam, LC, Kiang, AS, Campbell, M, Weinstock, GM, Koboldt, DC, Ding, L, Fulton, RS, Sodergren, EJ, Allman, D, Millington-Ward, S, Palfi, A, McKee, A, Blanton, SH, Slifer, S, Konidari, I, Farrar, GJ, Daiger, SP, Humphries, P (Jun 8, 2011). "A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement". European Journal of Human Genetics : EJHG 19 (10): 1074–81. doi:10.1038/ejhg.2011.86. PMID 21654732.
External links
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.
- 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.
- 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. doi:10.1093/hmg/4.4.641. PMID 7633413.
- 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.
- 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.
- Kiser PD, Golczak M, Lodowski DT, Chance MR, Palczewski K. (2009). "Crystal structure of native RPE65, the retinoid isomerase of the visual cycle". Proc Natl Acad Sci U S A. 106 (41): 17325–30. doi:10.1073/pnas.0906600106. PMC 2765077. PMID 19805034.
- 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.
- 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.
- 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.
- 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. doi:10.1073/pnas.95.6.3088. PMC 19699. PMID 9501220.
- 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.
- Marlhens F, Griffoin JM, Bareil C et al. (1999). "Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene". European Journal of Human Genetics 6 (5): 527–31. doi:10.1038/sj.ejhg.5200205. PMID 9801879.
- Ma JX, Zhang D, Laser M et al. (1999). "Identification of RPE65 in transformed kidney cells". FEBS Lett. 452 (3): 199–204. doi:10.1016/S0014-5793(99)00606-7. PMID 10386590.
- 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.
- 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.
- 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". American Journal of Human Genetics 70 (1): 224–9. doi:10.1086/338455. PMC 384890. PMID 11727200.
- 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.
- 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. doi:10.1007/BF02715866. PMID 12357075.
- 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. PMC 139241. PMID 12477932.
- 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". Journal of Medical Genetics 40 (9): 709–13. doi:10.1136/jmg.40.9.709. PMC 1735582. PMID 12960219.
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