RPE65
MIM.180069 1p31
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[ (||image_reduire{0,60}|inserer_attribut{alt,Proteins involved in congenital Leber amaurosis}) ] [ (||image_reduire{0,60}|inserer_attribut{alt,RPE65 mutations in congenital Leber amaurosis}) ]
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
- Leber congenital amaurosis type 2 (LCA2) (MIM.204100).
- autosomal recessive retinitis pigmentosa type 20