| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
|
|
|
|
|
|
abnormal expression in cerebellum-specific tumors by blocking neuronal differentiation |
| tumoral
|
| deletion
|
|
|
|
frequent target of deletion in colorectal cancer |
| constitutional
|
|
| --low
|
|
|
reduced expression in trisomy 21 from undifferentiated embryonic stem (ES) cells to adult brain |
| constitutional
|
|
| --over
|
|
reduced the level of transcriptional activation through the N- and C-terminals, suggesting the recruitment of a histone deacetylase  |
| constitutional
|
|
| --low
|
|
|
required for the differentiation of pluripotent cells into lineage-restricted neuronal progenitors during neurogenesis in the dentate gyrus of the hippocampus |
| constitutional
|
|
| --over
|
|
|
in Huntington disease, an excess of REST accumulates in the nucleus because of a mutation of the -huntingtin protein, which might repress the activity-dependent transcription of BDNF-PI, resulting in a loss of neuronal traits and the degeneration of neurons |
| tumoral
|
|
|
|
|
|
REST–less tumors represent a distinct, aggressive subset of breast tumors |
| constitutional
|
|
|
| loss of function
|
|
causes aberrant expression of RGC (retinal ganglion cell) transcription factors in proliferating RPCs (retinal progenitor cell), independent of ATOH7, resulting in increased RGC formation ( |
| constitutional
|
|
| --over
|
|
|
suppress KCNQ2 expression, and upregulated in response to neuropathic injury identifying the likely mechanism of KCNQ2 regulation |
| tumoral
|
|
| --low
|
|
|
expression significantly lower in breast cancer samples compared to normal and benign breast samples |
| constitutional
|
|
| --low
|
|
|
, in Alzheimer's disease, frontotemporal dementia and dementia with Lewy bodies, REST is lost from the nucleus and appears in autophagosomes together with pathological misfolded proteins |
