Hu, Mu, Rt, Po, Bv, Ca, Ch, XpApplications:
WB, Flow, ICC/IF, IHC, IHC-Fr, IHC-P, CyTOF-readyHost:
Species: Hu, Mu, Rt, Ca
Host: Pig Polyclonal
Retinal pigment epithelium-specific 65 kDa protein (RPE65) is a major protein of the retinal pigment epithelium, essential for the regeneration of rhodopsin in the visual cycle. Mutations in RPE65 are responsible for certain forms of autosomal recessive severe retinal dystrophy, including Leber Congenital Amaurosis (LCA). Loss of function results in a block in retinoid processing required for the synthesis of 11-cis retinal and the accumulation of retinyl esters in the RPE. RPE65 is highly conserved among vertebrate species.
|Product By Gene ID
- EC 18.104.22.168
- retinal pigment epithelium-specific protein (65kD)
- EC 22.214.171.124
- Retinol isomerase
- retinoid isomerohydrolase
- Retinal pigment epithelium-specific 65 kDa protein
- retinitis pigmentosa 20 (autosomal recessive)
- All-trans-retinyl-palmitate hydrolase
- RBP-binding membrane protein
- retinal pigment epithelium-specific protein 65kDa
Bioinformatics Tool for RPE65
Discover related pathways, diseases and genes to RPE65. Need help? Read the Bioinformatics Tool Guide
for instructions on using this tool.
Related RPE65 Blog Posts
Check out the latest blog posts on RPE65.
Read more RPE65 related blogs.
|Using RPE65 as a tool to investigate ocular gene therapies
While not life threatening, blindness and retinal disease are profoundly debilitating and greatly affect quality of life. Understandably, gene therapy has been subject to controversy given it’s potential effects on the rest of our cellular... Read more.
|RPE65: Vision, Blindness and Hope
Retinal pigment epithelium-specific 65 kDa protein (RPE65) is an essential vision protein, and so mutations in the RPE65 gene cause blindness. However, clinical trials using gene therapy to treat patients with a defective RPE65 gene suggest that some... Read more.