| Gene Symbol |
RPE65
|
| Gene Synonyms |
65kDa A930029L06Rik BCO3 LCA2 Mord1 mRPE65 p63 rd12 RP20 sRPE65 |
| Gene Full Name |
retinoid isomerohydrolase RPE65 |
| Gene Summary |
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] |
| Alternative Names |
all-trans-retinyl-palmitate hydrolase BCO family member 3 lutein isomerase meso-zeaxanthin isomerase modifier of retinal degeneration 1 RBP-binding membrane protein retinal pigment epithelium 65 retinal pigment epithelium 65-like retinal pigment epithelium abundant protein RPE65 retinal pigment epithelium specific protein 65 retinal pigment epithelium 65 kDa retinal pigment epithelium-specific 65 kDa protein retinal pigment epithelium-specific 65kD protein retinal pigment epithelium-specific protein (65kD) retinal pigment epithelium-specific protein 65 retinal pigment epithelium-specific protein 65kDa Retinitis pigmentos retinitis pigmentosa 20 (autosomal recessive) retinol isomerase RPE65 rpe65 gene for retinal pigment epithelium-specific protein RPE65 retinoid isomerohydrolase truncated RPE65 |
| Molecular Weight(MW) |
61kDa |
| Source |
Rabbit |
| Cellular Localization |
Cytoplasm,Cell membrane |