Get to know RPE65

The RPE65 gene is essential to the visual cycle1

  • The visual cycle is critical in the biological conversion of light into electrical signals.1-3
  • The RPE65 gene encodes the RPE65 protein. RPE65 is necessary for vitamin A metabolism in photoreceptor cells.1,2
  • The RPE65 protein is located in the retinal pigment epithelial (RPE) cells and converts all-trans-retinol to 11-cis-retinol, which subsequently forms 11-cis-retinal during the visual cycle.1-3
  • Mutations in the RPE65 gene lead to vision loss due to loss of function (or death) of RPE cells and eventual degeneration of photoreceptors.3,4
Illustration of the visual cycle being restored

The RPE65 gene is 1 out of more than 260 genes that may be responsible for inherited retinal disease.5,6

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