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GENATLAS PHENOTYPE |
last update : 16/06/2006 |
Symbol | CFD |
Location | 2q33.3 |
Name | corneal fleck dystrophy |
Other name(s) | Francois-Neetens speckled or flecked |
Corresponding gene | PIKFYVE |
Other symbol(s) | CDFN |
Main clinical features |
|
Genetic determination | autosomal dominant |
Function/system disorder | eye |
Type | disease |
Gene product |
Name | phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| nonsense
|  
| truncated protein
| affect the C-terminal part, eliminating both the spectrin repeats and the PIPKc sequence
| |
Remark(s) |