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FLASH GENE
Symbol KCNIP3 contributors: npt/mct - updated : 13-06-2017
HGNC name Kv channel interacting protein 3, calsenilin
HGNC id 15523
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
in the brains of Alzheimer disease and epilepsy patients, and may be due in part to decreased degradation of calsenilin, and that the dysfunction of proteasomal activity but not lysosomal activity contributes to accumulation of calsenilin in the ER
constitutional     --low  
promotes the degeneration of retinal ganglion cells (RGCs), amacrine cells, and bipolar cells
Susceptibility
Variant & Polymorphism
Candidate gene may represent feasible target for therapeutic intervention in Alzheimer disease
Marker
Therapy target
ANIMAL & CELL MODELS
  • Kcnip3 -/- mice displayed markedly reduced responses in models of acute thermal, mechanical, and visceral pain
  • mice lacking Kcnip3 had elevated levels of prodynorphin mRNA and dynorphin A peptides in the spinal cord, and the reduction of pain behaviors in Dream -/- mice was mediated through dynorphin-selective kappa-opiate receptors
  • Dream-deficient mice displayed persistent and unchecked A20 expression in response to endotoxin