Tissue expression
Cell line expression
Protein structure
RPE65
Retinoid isomerohydrolase RPE65BCO3, LCA2, rd12, RP20
The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this gene has acquired a divergent function that involves the concerted O-alkyl ester cleavage of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this gene are associated with early-onset severe blinding disorders such as Leber congenital. [provided by RefSeq, Oct 2017]
Top validated antibodies |
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Invitrogen Antibodies | ![]() |
6 references | Monoclonal |
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Novus Biologicals | ![]() |
64 references | Monoclonal |
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antibodies-online | ![]() |
47 references | Monoclonal |
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GeneTex | ![]() |
1 references | Monoclonal |
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Proteintech Group | ![]() |
12 references | Polyclonal |
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