RPE65

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]

Description

retinoid isomerohydrolase RPE65

Protein family

Disease related genes, Enzymes, FDA approved drug targets, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

1:p31.3 (68428822 - 68449954)

Ensembl ID

ENSG00000116745  (ver. 99.38)

Orthologs

Mouse Rpe65: ENSMUSG00000028174

UniProt

Q16518

neXtProt

NX_Q16518

Human splice variants
Mouse splice variants