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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| RPE65-20-RE | 20 (40 μL) | 200 μL |  |
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| RPE65-20-OR | 20 (40 μL) | 200 μL |  |
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| RPE65-20-GO | 20 (40 μL) | 200 μL |  |
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| RPE65-20-GR | 20 (40 μL) | 200 μL |  |
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| RPE65-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : RPE65
Gene Name : RPE65, retinoid isomerohydrolase
Chromosome : CHR 1: 684,503,21-684,288,21
Locus : 1p31.3
Alt. Genes : LRPPRC
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