Protein Name retinoid isomerohydrolase RPE65
Organism Homo sapiens
Gene ID 6121
Gene Symbol

RPE65

UniProt Q16518 (RPE65_HUMAN)
Relationships Total Number of functionally related compound(s) : 88
Total Number of Articles : 121
Description

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]

synonyms
  • retinoid isomerohydrolase
  • BCO family, member 3
  • RBP-binding membrane protein
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Properties