| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
|
| loss of function
|
|
responsible for developmental defects of bone (Kim 2008) |
| tumoral
| somatic mutation
|
|
|
|
|
implicate the ceramide pathway in human leukemias (Kim 2008) |
| constitutional
|
|
| --over
|
|
|
may increase cellular ceramide levels, leading to enhanced cell death and arrested cell proliferation (Zhu 2010) |
| constitutional
|
|
|
| loss of function
|
perturbs neuronal proteostasis and causes progressive cognitive impairment  |
| tumoral
|
|
|
| loss of function
|
|
plays a role in the survival or proliferation ofiver cancer stem-like cells (CSCs), leading to spontaneous tumors, which is associated with tumor-specific effects on lipid homeostasis |
| constitutional
|
|
|
| gain of function
|
|
is required for the development of infection-induced diaphragm calpain activation and muscle weakness |
