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  Domain Name: RPE65
Retinal pigment epithelial membrane protein. This family represents a retinal pigment epithelial membrane receptor which is abundantly expressed in retinal pigment epithelium, and binds plasma retinal binding protein. The family also includes the sequence related neoxanthin cleavage enzyme in plants and lignostilbene-alpha,beta-dioxygenase in bacteria.
No pairwise interactions found for the domain RPE65

Total Mutations Found: 11
Total Disease Mutations Found: 10
This domain occurred 3 times on human genes (4 proteins).



  LEBER CONGENITAL AMAUROSIS 2
  LEBER CONGENITAL AMAUROSIS 2, INCLUDED
  RETINITIS PIGMENTOSA 20


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for RPE65



















































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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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