Gene: RPE65 (retinoid isomerohydrolase RPE65) Homo sapiens
Symbol: RPE65
Name: retinoid isomerohydrolase RPE65
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: all-trans-retinyl-palmitate hydrolase; BCO family, member 3; BCO3; LCA2; meso-zeaxanthin isomerase; mRPE65; p63; RBP-binding membrane protein; rd12; retinal pigment epithelium specific protein 65; retinal pigment epithelium, 65 kda; retinal pigment epithelium-specific 65 kDa protein; retinal pigment epithelium-specific protein 65kDa; retinitis pigmentosa 20 (autosomal recessive); retinoid isomerohydrolase; retinol isomerase; RP20; RPE65, retinoid isomerohydrolase; sRPE65
Mus musculus (house mouse) : Rpe65 (retinal pigment epithelium 65)  MGI  Alliance
Rattus norvegicus (Norway rat) : Rpe65 (retinoid isomerohydrolase RPE65)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Rpe65 (retinoid isomerohydrolase RPE65)
Pan paniscus (bonobo/pygmy chimpanzee) : RPE65 (retinoid isomerohydrolase RPE65)
Canis lupus familiaris (dog) : RPE65 (retinoid isomerohydrolase RPE65)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Rpe65 (retinoid isomerohydrolase RPE65)
Sus scrofa (pig) : RPE65 (retinoid isomerohydrolase RPE65)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38168,428,822 - 68,450,322 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37168,894,507 - 68,915,642 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36168,667,095 - 68,688,230 (-)NCBINCBI36hg18NCBI36
Build 34168,606,465 - 68,627,663NCBI
Celera167,184,748 - 67,205,854 (-)NCBI
Cytogenetic Map1p31.3NCBI
HuRef167,004,313 - 67,025,452 (-)NCBIHuRef
CHM1_1169,009,866 - 69,031,001 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on RPE65
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 732416
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-05-14
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.