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

Tissue specificity

Tissue enhanced (brain, choroid plexus, retina, seminal vesicle)

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Protein evidence (Kim et al 2014)

Chromosome

1 (68428822 - 68449954)

Ensembl ID

ENSG00000116745  (ver. 103.38)

Orthologs

Mouse Rpe65: ENSMUSG00000028174

UniProt

Q16518

neXtProt

NX_Q16518

Human splice variants
Mouse splice variants

Protein structure