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GENATLAS PHENOTYPE |
last update : 5/09/2006 |
Symbol | RDLO |
Location | 11q23.3 |
Name | retinal degeneration, late-onset |
Corresponding gene | C1QTNF5 |
Other symbol(s) | LORD, LORMD |
Main clinical features |
|
Genetic determination | autosomal dominant |
Function/system disorder | eye |
Type | disease |
Gene product |
Name | C1q and tumor necrosis factor related protein 5 |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
|  
| misfolded and retained within the endoplasmic reticulum (ER)and compromised RPE cell function
| |