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FLASH GENE
Symbol KLC1 contributors: shn/npt - updated : 03-10-2017
HGNC name kinesin light chain 1
HGNC id 6387
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
    ANIMAL & CELL MODELS
  • 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 (