Symbol
| CLCN3
| contributors: mct - updated : 15-09-2021
|
HGNC name
| chloride channel 3
|
HGNC id
| 2021
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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constitutional
|  
|  
| --low
|  
|
markedly reduces neointimal hyperplasia following vascular injury | tumoral
|  
|  
| --over
|  
|
on the plasma membrane of human glioma cells where its activity is regulated through phosphorylation via Ca(2+)/calmodulin-dependent protein kinase II (CAMK2G)  | constitutional
|  
|  
|  
| loss of function
|
causes severe neurodegeneration  | constitutional
|  
|  
| --over
|  
|
jn endometriosis, positively correlated with endometrioma size  | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
immunology | inflammatory | |  |
target for the prevention of inflammatory and proliferative vascular diseases | cancer | angiogenesis | |  |
target for the prevention of inflammatory and proliferative vascular diseases |
| | | |
| ClC-3-null mice exhibited a reduction in neointimal area of the carotid artery 28 days after injury  | |
Clcn3-/- mice display severe neurodegeneration, leading to an almost complete loss of the hippocampus within a few months of life and to blindness from an early complete loss of photoreceptors |
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