Symbol
| KCNIP3
| contributors: npt/mct - updated : 13-06-2017
|
HGNC name
| Kv channel interacting protein 3, calsenilin
|
HGNC id
| 15523
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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constitutional
|  
|  
| --over
|  
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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 | |
Variant & Polymorphism
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| |
Candidate gene
| may represent feasible target for therapeutic intervention in Alzheimer disease |
Marker
Therapy target
| | |
| 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 |