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RPE65 - retinoid isomerohydrolase RPE65
- Synonym(s) : all-trans-retinyl-palmitate hydrolase, BCO3, BCO family, member 3, LCA2, rd12, retinol isomerase
- Previous symbols and names : RP20, retinal pigment epithelium-specific protein 65kDa
- Type : gene with protein product
- Chromosomal location : 1p31.3
- OMIM: 180069
- HGNC: 10294
- UniProtKB: Q16518
- Genatlas: RPE65
- Ensembl: ENSG00000116745
- IUPHAR-DB: -
- Reactome: Q16518
- LOVD: RPE65
Diseases list
- Disease-causing germline mutation(s) in Leber congenital amaurosis
ORPHA:65 
- Disease-causing germline mutation(s) in Retinitis pigmentosa
ORPHA:791 - Disease-causing germline mutation(s) in Severe early-childhood-onset retinal dystrophy
ORPHA:364055
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
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