RPE65

Retinal pigment epithelium-specific protein 65kDa, also known as RPE65, is a human gene.cite web | title = Entrez Gene: RPE65 retinal pigment epithelium-specific protein 65kDa| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6121| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: RPE65 retinal pigment epithelium-specific protein 65kDa| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6121| accessdate = ]

ee also

* The Visual Cycle

References

Further reading

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

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = now
update_citations = yes