| Symbol
| KLC1
| contributors: shn/npt - updated : 03-10-2017
|
| HGNC name
| kinesin light chain 1
|
| HGNC id
| 6387
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
|
| loss of function
|
leading to axonal transport defects and gain of function of MAPT can initiate neurodegeneration and/or exacerbate human tau-dependent disease pathways in AD and other neurodegenerative tauopathies  | |
| Susceptibility
|
to Alzheimer disease to multiple scerosis (MS) |
| Variant & Polymorphism
other
| polymorphisms increasing the risk of Alzheimer disease |
|
56836CC variant proved to exert a significant protective effect on the occurrence of MS (Szolnoki 2007) |
| 
|
Candidate gene
Marker
Therapy target
|
| | | |
|
| KLC1 gene-targeted mice results in significantly smaller mutant mice that also exhibited pronounced motor disabilities ( | |
in living mice carrying a deletion of the kinesin light chain 1 (KLC1& |
|
8722;/& |
|
8722;) motor subunit revealed delayed axonal transport rates, and t early and selective transport defects can activate c-Jun N-terminal stress kinase (JNK) pathways that initiate abnormal hyperphosphorylation of tau in the absence of Abeta toxicity ( |
|
mislocalization of opsin is a major cause of photoreceptor cell death from kinesin-2 dysfunction ( |