RPE65

RPE65
Identifiers
Aliases	RPE65, BCO3, LCA2, RP20, mrd12, sretinal pigment epithelium-specific protein 65kDa, retinal pigment epithelium specific protein 65, retinoid isomerohydrolase, p63, retinoid isomerohydrolase RPE65
External IDs	OMIM: 180069; MGI: 98001; HomoloGene: 20108; GeneCards: RPE65; OMA:RPE65 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	68,449,954 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	159,330,958 bp
RNA expression pattern
	Top expressed in
	retinal pigment epithelium; ; testicle; ; optic nerve; ; Epithelium of choroid plexus; ; hypothalamus; ; substantia nigra; ; lower lobe of lung; ; C1 segment; ; seminal vesicula; ; ventricular zone;
	Top expressed in
	retinal pigment epithelium; ; ciliary body; ; embryo; ; epithelium of lens; ; embryo; ; iris; ; dorsal striatum; ; neural layer of retina; ; superior frontal gyrus; ; cornea;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	phosphatidylcholine binding; cardiolipin binding; phosphatidylserine binding; metal ion binding; oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen; hydrolase activity; all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity; all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity; retinal isomerase activity; isomerase activity; retinol isomerase activity;
Cellular component	cytoplasm; organelle membrane; cell body; membrane; intracellular membrane-bounded organelle; plasma membrane; endoplasmic reticulum; endoplasmic reticulum membrane;
Biological process	insulin receptor signaling pathway; response to light stimulus; response to stimulus; retinol metabolic process; detection of light stimulus involved in visual perception; retinoid metabolic process; retinal metabolic process; retina morphogenesis in camera-type eye; retina homeostasis; retina development in camera-type eye; circadian rhythm; vitamin A metabolic process; camera-type eye development; neural retina development; visual perception; cellular response to electrical stimulus; zeaxanthin biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	6121
	19892
	ENSG00000116745
	ENSMUSG00000028174
	Q16518
	Q91ZQ5
	NM_000329
	NM_029987
	NP_000320
	NP_084263
	Wikidata
View/Edit Human	View/Edit Mouse

Retinal pigment epithelium-specific 65 kDa protein (also known as RPE65) is a retinoid isomerohydrolase enzyme of the vertebrate visual cycle. RPE65 is expressed in the retinal pigment epithelium (RPE, a layer of epithelial cells that nourish the photoreceptor cells) and is responsible for the conversion of all-trans-retinyl esters to 11-cis-retinol during phototransduction. 11-cis-retinol is then used in visual pigment regeneration in photoreceptor cells. RPE65 belongs to the carotenoid oxygenase family of enzymes.

Mutations in the RPE65 gene have been associated with Leber's congenital amaurosis type 2 (LCA2) and retinitis pigmentosa (RP).