detection of light stimulus involved in visual perception
retinoid metabolic process
retinal metabolic process
retina morphogenesis in camera-type eye
retina homeostasis
retina development in camera-type eye
circadian rhythm
vitamin A metabolic process
camera-type eye development
neural retina development
visual perception
cellular response to electrical stimulus
zeaxanthin biosynthetic process
Sources:Amigo / QuickGO
Orthologs
Species
Human
Mouse
Entrez
6121
19892
Ensembl
ENSG00000116745
ENSMUSG00000028174
UniProt
Q16518
Q91ZQ5
RefSeq (mRNA)
NM_000329
NM_029987
RefSeq (protein)
NP_000320
NP_084263
Location (UCSC)
Chr 1: 68.43 – 68.45 Mb
Chr 3: 159.3 – 159.33 Mb
PubMed search
[3]
[4]
Wikidata
View/Edit Human
View/Edit Mouse
Retinal pigment epithelium-specific 65 kDa protein, also known as retinoid isomerohydrolase, is an enzyme of the vertebrate visual cycle that is encoded in humans by the RPE65 gene.[5][6] RPE65 is expressed in the retinal pigment epithelium (RPE, a layer of epithelial cells that nourish the photoreceptor cells) and is responsible for the conversion of all-trans-retinyl esters to 11-cis-retinol during phototransduction.[7] 11-cis-retinol is then used in visual pigment regeneration in photoreceptor cells.[8][9] RPE65 belongs to the carotenoid oxygenase family of enzymes.[8]
^ abcGRCh38: Ensembl release 89: ENSG00000116745 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000028174 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Hamel CP, Tsilou E, Pfeffer BA, Hooks JJ, Detrick B, Redmond TM (Jul 1993). "Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro". The Journal of Biological Chemistry. 268 (21): 15751–7. doi:10.1016/S0021-9258(18)82319-5. PMID 8340400.
^"Entrez Gene: RPE65 retinal pigment epithelium-specific protein 65kDa".
^Wolf G (Mar 2005). "Function of the protein RPE65 in the visual cycle". Nutrition Reviews. 63 (3): 97–100. doi:10.1111/j.1753-4887.2005.tb00127.x. PMID 15825812.
^ abKiser PD, Palczewski K (Sep 2010). "Membrane-binding and enzymatic properties of RPE65". Progress in Retinal and Eye Research. 29 (5): 428–42. doi:10.1016/j.preteyeres.2010.03.002. PMC 2903629. PMID 20304090.
^Cite error: The named reference Kiser_2015 was invoked but never defined (see the help page).
enzyme of the vertebrate visual cycle that is encoded in humans by the RPE65 gene. RPE65 is expressed in the retinal pigment epithelium (RPE, a layer of epithelial...
patients with Leber congenital amaurosis type 2. It replaces the miscoded RPE65 protein that is produced within the retinal pigmented epithelium. It has...
S.; Schwartz S. B.; Boye S. L.; Windsor E. A. M.; et al. (2009). "Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual...
then converted to 11-cis-retinol by the isomerohydrolase RPE65. The isomerase activity of RPE65 has been shown; it is uncertain whether it also acts as...
used a common cold virus to deliver a normal version of the gene called RPE65 directly into the eyes of affected patients. All three patients, aged 19...
catalyzed by REH. The esters are also intermediates in the visual cycle: RPE65 isomerizes the retinyl part to 11-cis-retinal. Vitamin A palmitate is a...
and cones. RPE65 knockout mice (Rpe65(-/-)) showed much weaker phase shifts when compared to rodless, coneless mice, which suggested that RPE65 might have...
congenital amaurosis is an inherited blinding disease caused by mutations in the RPE65 gene. The results of a small clinical trial in children were published in...
cycle" that underlies vertebrate vision. Retinol is converted by the protein RPE65 within the pigment epithelium of the retina into 11-cis-retinal. This molecule...
first AAV-based in vivo gene therapy—voretigene neparvovec—which treated RPE65-associated Leber congenital amaurosis. As of 2020, 230 clinical trials using...
specifically related to the retinal compound. Retinol is converted by the enzyme RPE65 within the retinal pigment epithelium into 11-cis-retinal. Within the eye...
the RPE65 protein. Retinal pigment epithelium-specific 65 kDa protein is an enzyme in the vertebral visual pigment. The next year he mapped the RPE65 gene...
synthesized in 2002 and was used in the isolation and characterization of RPE65. Nesnas, N.; Rando, R. R.; Nakanishi, K. (2002). "Synthesis of biotinylated...
retinol, commonly known as vitamin A. This family includes an enzyme known as RPE65 which is abundantly expressed in the retinal pigment epithelium where it...
in Phase III clinical trials of a visual cycle modulator that modulates RPE65 activity to treat Stargardt's. Kubota Vision published the results of a...
three studies, an AAV vector was used to deliver a functional copy of the RPE65 gene, which restored vision in children suffering from LCA. These results...
strain with a single base change in codon 450 of the RPE65 gene (the Leu450Met variation) in which RPE65 regenerates rhodopsin at a far slower rate than wild-type...
Roman AJ, et al. (August 2006). "Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis". Human...
in retinol metabolism. In vertebrates, RPE65 is the active retinol isomerase in the visual cycle. A lack of RPE65 function results in congenital blindness...
pushed forward and demonstrated that AAV-mediated delivery of a functional RPE65 gene significantly improved sight in near-blind dogs. Based on their pre-clinical...
S.; Schwartz S. B.; Boye S. L.; Windsor E. A. M.; et al. (2009). "Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual...
Global Information
