RPE65
| is a | gene |
| is | mentioned by |
| EntrezGene | 6121 |
| PheGenI | 6121 |
| VariationViewer | 6121 |
| ClinVar | RPE65 |
| GeneCards | RPE65 |
| dbSNP | 6121 |
| Diseases | RPE65 |
| SADR | 6121 |
| HugeNav | 6121 |
| wikipedia | RPE65 |
| RPE65 | |
| gopubmed | RPE65 |
| EVS | RPE65 |
| HEFalMp | RPE65 |
| MyGene2 | RPE65 |
| 23andMe | RPE65 |
| # SNPs | 25 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1057518922 | 0 | 68,431,281 | |
| rs1064795255 | 0 | 68,431,376 | |
| rs121917744 | 0 | 68,438,228 | |
| rs121917745 | 0 | 68,429,835 | |
| rs121918844 | 0 | 68,444,664 | |
| rs368088025 | 0 | 68,446,825 | |
| rs61751276 | 0 | 68,449,890 | |
| rs61751281 | 0 | 68,446,837 | |
| rs61752871 | 0 | 68,444,858 | |
| rs61752872 | 0 | 68,444,857 | |
| rs61752878 | 0 | 68,444,632 | |
| rs61752883 | 0 | 68,440,997 | |
| rs61752895 | 0 | 68,439,586 | |
| rs61752902 | 0 | 68,439,051 | |
| rs61752904 | 0 | 68,439,033 | |
| rs61752906 | 0 | 68,438,977 | |
| rs61752909 | 0 | 68,438,293 | |
| rs62636295 | 0 | 68,431,503 | |
| rs62636300 | 0 | 68,431,328 | |
| rs62637004 | 0 | 68,431,160 | |
| rs62642584 | 0 | 68,444,825 | |
| rs62653011 | 0 | 68,438,213 | |
| rs62653015 | 0 | 68,429,927 | |
| rs786205444 | 0 | 68,431,149 | |
| rs886042807 | 0 | 68,446,805 |
The RPE65 gene provides instructions for making a protein that is essential for normal vision. The RPE65 protein is produced in a thin layer of cells at the back of the eye called the retinal pigment epithelium (RPE)GHR
More than 30 recessively inherited mutations in the RPE65 gene have been found to cause one form of Leber congenital amaurosis. These biallelic RPE65 mutations account for 6 to 16 percent of all cases of this condition. Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy.GHR
In 2018, the US FDA approved Luxturna (Voretigene neparvovec) for the treatment of Leber congenital amaurosis due to biallelic RPE65 mutations. Voretigene is the first treatment available for this condition. The gene therapy is not a cure for the condition, but substantially improves vision in those treated.Wikipedia
[PMID 21654732] Retinitis pigmentosa with choroidal involvement
