Home > A. Molecular pathology > RPE65

RPE65

MIM.180069 1p31

Sunday 20 April 2008

The retinal pigment epithelium (RPE) is a monolayer simple epithelium apposed to the outer surface of the retinal photoreceptor cells.

RPE is involved in many aspects of outer retinal metabolism that are essential to the continued maintenance of the photoreceptor cells, including many RPE-specific functions such as the retinoid visual cycle and photoreceptor outer segment disc phagocytosis and recycling.

RPE65 is a unique RPE-specific microsomal protein. It is conserved in vertebrates and was a candidate for the site of mutation in hereditary retinal disorders implicating the RPE.

Pathology

- germline mutations in

Portfolio

  • Proteins involved in congenital Leber amaurosis
  • RPE65 mutations in congenital Leber amaurosis