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FLASH GENE
Symbol CLCN3 contributors: mct - updated : 15-09-2021
HGNC name chloride channel 3
HGNC id 2021
ASSOCIATED DISORDERS
corresponding disease(s) NEDHYBA , NEDSBA
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
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
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
immunologyinflammatory 
target for the prevention of inflammatory and proliferative vascular diseases
cancerangiogenesis 
target for the prevention of inflammatory and proliferative vascular diseases
ANIMAL & CELL MODELS
  • 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