RPE65

From Wikipedia, the free encyclopedia

Retinal pigment epithelium-specific protein 65kDa

Identifiers

RPE65; LCA2; RP20; mRPE65; rd12; sRPE65

External IDs

OMIM: 180069 MGI: 98001 HomoloGene: 20108

Gene ontology
Molecular Function:	• protein binding
Cellular Component:	• membrane
Biological Process:	• regulation of rhodopsin gene activity • visual perception • retinal metabolic process • response to stimulus

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000329 (mRNA)
NP_000320 (protein)

NM_029987 (mRNA)
NP_084263 (protein)

Location

Chr 1: 68.67 - 68.69 Mb

Chr 3: 159.54 - 159.56 Mb

Pubmed search

[1]

[2]

Retinal pigment epithelium-specific protein 65kDa, also known as RPE65, is a human gene.^[1]

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 during phototransduction, 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.^[1]

[edit] See Also

The Visual Cycle

[edit] References

^ ^a ^b Entrez Gene: RPE65 retinal pigment epithelium-specific protein 65kDa.

[edit] 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. 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, 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.
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.
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. 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.". Eur. J. Hum. Genet. 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. 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.". Am. J. Hum. Genet. 70 (1): 224-9. 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. 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. 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.". J. Med. Genet. 40 (9): 709-13. PMID 12960219.