RPE65 retinoid isomerohydrolase RPE65

Gene ID: 6121, updated on 23-Mar-2024
Gene type: protein coding
Also known as: p63; BCO3; LCA2; RP20; rd12; mRPE65; sRPE65

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Leber congenital amaurosis 2 MedGen: C1859844OMIM: 204100GeneReviews: Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview, RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy	See labs
Retinitis pigmentosa 20 MedGen: C3151086OMIM: 613794GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	See labs
Retinitis pigmentosa 87 with choroidal involvement MedGen: C5231465OMIM: 618697GeneReviews: Not available	See labs

Genomic context

Location:: 1p31.3

Sequence:: Chromosome: 1; NC_000001.11 (68428822..68449954, complement)

Total number of exons:: 14

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for RPE65 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
RPE65 @ LOVD
Variation Viewer
Related Variants

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