RPE Gene: Retinal Pigment Epithelium-Specific 65 kDa Protein
Essential enzyme in the visual cycle; mutations cause inherited retinal dystrophies.
Gene Information Card
| Symbol | RPE |
|---|---|
| Full Name | Retinal pigment epithelium-specific 65 kDa protein |
| Gene Type | Protein coding |
| Chromosomal Location | 1p31.3 |
| NCBI Gene ID | 6121 ncbi.nlm.nih.gov/gene/6121 |
| Ensembl ID | ENSG00000116745 |
| UniProt ID | Q16518 |
| OMIM ID | 180069 |
| HGNC ID | 10294 |
| Aliases | RPE65, LCA2, RP20, rd12, BCO3 |
Description
The RPE gene encodes the retinoid isomerohydrolase RPE65, a key enzyme in the visual cycle. It is expressed predominantly in the retinal pigment epithelium (RPE) and converts all-trans-retinyl esters to 11-cis-retinol, which is essential for photoreceptor function. Mutations in RPE65 cause autosomal recessive early-onset severe retinal dystrophy, including Leber congenital amaurosis type 2 (LCA2) and retinitis pigmentosa type 20 (RP20).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leber congenital amaurosis 2 (LCA2) | Loss-of-function mutations lead to absent or reduced isomerohydrolase activity, disrupting the visual cycle and causing photoreceptor degeneration. | OMIM #204100; ClinVar |
| Retinitis pigmentosa 20 (RP20) | Similar mechanism; progressive rod-cone dystrophy due to RPE65 deficiency. | OMIM #613794; ClinVar |
| Early-onset severe retinal dystrophy (EOSRD) | Biallelic mutations cause severe visual impairment in infancy. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retinal pigment epithelium | High (nTPM ~ 200) | High |
| Eye (whole) | Moderate | Medium |
| Other tissues | Low/Not detected | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (RPE cell line) | High | Commonly used for RPE studies |
| HeLa | Low | Not endogenous |
| HEK293 | Low | Overexpression used for functional assays |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.271C>T (p.Arg91Trp) | Missense | Common in LCA2 | Reduced enzymatic activity |
| c.1102C>T (p.Arg368Ter) | Nonsense | Reported | Loss of function |
| c.1444C>T (p.Arg482Ter) | Nonsense | Reported | Loss of function |
| c.353G>A (p.Arg118Gln) | Missense | Reported | Reduced activity |
Mutation functional classification
Loss of Function (LOF)
Most RPE65 mutations are loss-of-function, leading to reduced or absent isomerohydrolase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • retinoid isomerohydrolase activity | • iron ion binding |
| • oxidoreductase activity | • visual perception |
| • retinoid metabolic process | • response to light stimulus |
Pathways
• Visual cycle (retinoid metabolism)
• Retinol metabolism
Protein Summary
RPE65 is a 65-kDa membrane-associated protein localized to the smooth endoplasmic reticulum of retinal pigment epithelium cells. It catalyzes the conversion of all-trans-retinyl palmitate to 11-cis-retinol, a critical step in regenerating the chromophore 11-cis-retinal for photoreceptors. The protein contains an iron-binding site and belongs to the carotenoid oxygenase family. Its deficiency leads to accumulation of retinyl esters and loss of photoreceptor function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPE65 Knockout HEK293 Cell Line | EDJ-KQ2185 | Human | 6121 | Details Get a Quote |
| RPE Knockout HEK293 Cell Line | EDJ-KQ5687 | Human | 6120 | Details Get a Quote |
| RPEL1 Knockout HEK293 Cell Line | EDJ-KQ15120 | Human | 729020 | Details Get a Quote |
| RPE Knockout HCT 116 Cell Line | EDJ-KQ29047 | Human | 6120 | Details Get a Quote |
| RPE Knockout HeLa Cell Line | EDJ-KQ29048 | Human | 6120 | Details Get a Quote |
| RPE65 Knockout HeLa Cell Line | EDJ-KQ54339 | Human | 6121 | Details Get a Quote |
| RPEL1 Knockout HeLa Cell Line | EDJ-KQ60729 | Human | 729020 | Details Get a Quote |
| RPE Knockout A-549 Cell Line | EDJ-KQ62834 | Human | 6120 | Details Get a Quote |
| RPE65 Knockout A-549 Cell Line | EDJ-KQ62835 | Human | 6121 | Details Get a Quote |
| RPEL1 Knockout A-549 Cell Line | EDJ-KQ69199 | Human | 729020 | Details Get a Quote |
| RPE65 Knockout HCT 116 Cell Line | EDJ-KQ71301 | Human | 6121 | Details Get a Quote |
| RPEL1 Knockout HCT 116 Cell Line | EDJ-KQ77556 | Human | 729020 | Details Get a Quote |
