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Retinal Pigment Epithelium Specific Protein 65kDa (RPE65)

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LCA2; RP20; mRPE65; rd12; sRPE65; Retinoid isomerohydrolase; All-trans-retinyl-palmitate hydrolase; Retinol isomerase

Retinal Pigment Epithelium Specific Protein 65kDa (RPE65)
CCC C768
HGNC 10294
MGI 98001
PubMed 9843205
RGD 621396
UniProt Q16518
Wiki RPE65
65 is 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC768Hu01 Recombinant Retinal Pigment Epithelium Specific Protein 65kDa (RPE65) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Retinal Pigment Epithelium Specific Protein 65kDa (RPE65) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Retinal Pigment Epithelium Specific Protein 65kDa (RPE65) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Retinal Pigment Epithelium Specific Protein 65kDa (RPE65) CLIA Kit Customized Service Offer
n/a ELISA Kit for Retinal Pigment Epithelium Specific Protein 65kDa (RPE65) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC768Mu01 Recombinant Retinal Pigment Epithelium Specific Protein 65kDa (RPE65) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Retinal Pigment Epithelium Specific Protein 65kDa (RPE65) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Retinal Pigment Epithelium Specific Protein 65kDa (RPE65) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Retinal Pigment Epithelium Specific Protein 65kDa (RPE65) CLIA Kit Customized Service Offer
n/a ELISA Kit for Retinal Pigment Epithelium Specific Protein 65kDa (RPE65) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Retinal Pigment Epithelium Specific Protein 65kDa (RPE65) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Retinal Pigment Epithelium Specific Protein 65kDa (RPE65) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Retinal Pigment Epithelium Specific Protein 65kDa (RPE65) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Retinal Pigment Epithelium Specific Protein 65kDa (RPE65) CLIA Kit Customized Service Offer
n/a ELISA Kit for Retinal Pigment Epithelium Specific Protein 65kDa (RPE65) ELISA Kit Customized Service Offer
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  16. "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. 40:709-713(2003) [PubMed] [Europe PMC] [Abstract]
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  18. "Thirty-year follow-up of a patient with Leber congenital amaurosis and novel RPE65 mutations."Am. J. Ophthalmol. 137:375-377(2004) [PubMed] [Europe PMC] [Abstract]
  19. "Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis."Hum. Mutat. 23:306-317(2004) [PubMed] [Europe PMC] [Abstract]
  20. "A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers."Invest. Ophthalmol. Vis. Sci. 45:4433-4439(2004) [PubMed] [Europe PMC] [Abstract]
  21. "Evaluation of genotype-phenotype associations in Leber congenital amaurosis."Retina 25:919-929(2005) [PubMed] [Europe PMC] [Abstract]
  22. "Gene symbol: RPE65. Disease: Leber's congenital amaurosis. Accession #Hm0548."Hum. Genet. 118:780-780(2006) [PubMed] [Europe PMC] [Abstract]
  23. "Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients."Invest. Ophthalmol. Vis. Sci. 48:4284-4290(2007) [PubMed] [Europe PMC] [Abstract]
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  25. "A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement." Eur. J. Hum. Genet. 19:1074-1081(2011) [PubMed] [Europe PMC] [Abstract]
  26. "Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis."PLoS ONE 6:E19458-E19458(2011) [PubMed] [Europe PMC] [Abstract]
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  29. "Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy."Mol. Vis. 19:1554-1564(2013) [PubMed] [Europe PMC] [Abstract]