Gene Symbol | RPE65 |
Entrez Gene ID | 6121 |
Full Name | RPE65, retinoid isomerohydrolase |
Synonyms | BCO3,LCA2,RP20,mRPE65,p63,rd12,sRPE65 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Leber congenital amaurosis 2, 204100 (3); Retinitis pigmentosa 20, 613794 (3) |