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GeneE
8 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KLC4
kinesin light chain 4
Chromosome 6 Β· 6p21.1
NCBI Gene: 89953Ensembl: ENSG00000137171.16HGNC: HGNC:21624UniProt: Q9NSK0
66PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingkinesin bindingmicrotubule-based movementcytoplasmearly-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathylung cancerneoplasmhereditary spastic paraplegia
✦AI Summary

KLC4 (kinesin light chain 4) is a microtubule-associated motor protein that functions as a light chain component of the kinesin complex, mediating cargo coupling to the heavy chain and regulating ATPase activity 1. In normal physiology, KLC4 supports intracellular transport and organelle trafficking through microtubule-based movement 1. KLC4 mutations cause hereditary spastic paraplegia (HSP), a neurodegenerative disorder. A 19 bp deletion in exon 6 generates a truncated protein and causes autosomal-recessive spastic paraplegia with progressive neurological decline 2. Heterozygous variants can lead to late-onset autosomal-dominant HSP, as demonstrated in humanized C. elegans models showing nuclear migration defects correlating with clinical severity 3. Beyond neurodegeneration, KLC4 is upregulated in lung and cervical cancers and promotes radioresistance through mitochondrial protection. KLC4 depletion induces apoptosis via mitochondrial dysfunction, increased reactive oxygen species, and calcium influx 1. KLC4 also confers chemoresistance through CHK2-mediated DNA damage response inhibition 4. Notably, SETD3-mediated KLC4 downregulation restores radiosensitivity in cervical cancer 5. Additionally, KLC4 dysregulation associates with depression-like phenotypes through impaired synaptic plasticity 6. These findings suggest KLC4 is a therapeutic target for both neurodegeneration and cancer resistance.

Sources cited
1
KLC4 functions in intracellular transport and organelle trafficking; its depletion induces apoptosis through mitochondrial dysfunction and calcium influx
PMID: 29717133
2
Homozygous KLC4 mutation (19 bp deletion in exon 6) causes autosomal-recessive hereditary spastic paraplegia
PMID: 26423925
3
Heterozygous KLC4 variants cause autosomal-dominant HSP; humanized C. elegans models show nuclear migration defects correlating with clinical severity
PMID: 37565267
4
KLC4 promotes chemoresistance in lung cancer through interaction with checkpoint kinase CHK2 in DNA damage response
PMID: 32457423
5
KLC4 downregulation by SETD3 restores radiosensitivity in cervical cancer cells
PMID: 31235251
6
KLC4 dysregulation associates with depression-like phenotypes through impaired synaptic plasticity in prefrontal cortex
PMID: 41765126
Disease Associationsβ“˜21
early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathyOpen Targets
0.33Weak
lung cancerOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.05Suggestive
hereditary spastic paraplegiaOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
AnxietyOpen Targets
0.02Suggestive
cervical cancerOpen Targets
0.02Suggestive
Spastic paraplegiaOpen Targets
0.01Suggestive
head and neck squamous cell carcinomaOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
neuromuscular diseaseOpen Targets
0.00Suggestive
non-small cell lung carcinomaOpen Targets
0.00Suggestive
MyelopathyOpen Targets
0.00Suggestive
neurodegenerative diseaseOpen Targets
0.00Suggestive
neuropathyOpen Targets
0.00Suggestive
Neoplasm of the lungOpen Targets
0.00Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
depressive disorderOpen Targets
0.00Suggestive
Familial prostate cancerOpen Targets
0.00Suggestive
Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathyUniProt
Pathogenic Variants2
NM_201521.3(KLC4):c.553G>T (p.Glu185Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 185
NM_201521.3(KLC4):c.799_817del (p.Asn267fs)Pathogenic
Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy
β˜†β˜†β˜†β˜†2025β†’ Residue 267
View on ClinVar β†—
Related Genes
KIF3CShared pathway100%DYNLT2Shared pathway100%KIF21BShared pathway100%DYNLT4Shared pathway100%KIF6Shared pathway100%DYNLT5Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Heart
26%
Ovary
23%
Brain
21%
Lung
14%
Bone Marrow
14%
Gene Interaction Network
Click a node to explore
KLC4KIF3CDYNLT2KIF21BDYNLT4KIF6DYNLT5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NSK0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.79LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.62 [0.48–0.79]
RankingsWhere KLC4 stands among ~20K protein-coding genes
  • #7,080of 20,598
    Most Researched66
  • #4,390of 5,498
    Most Pathogenic Variants2
  • #6,541of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedKLC4
Sources retrieved8 papers
Response timeβ€”
πŸ“„ Sources
8β–Ό
1
A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4.
PMID: 37565267
Dis Model Mech Β· 2023
1.00
2
Kinesin light chain-4 depletion induces apoptosis of radioresistant cancer cells by mitochondrial dysfunction via calcium ion influx.
PMID: 29717133
Cell Death Dis Β· 2018
0.88
3
Radiotherapy diagnostic biomarkers in radioresistant human H460 lung cancer stem-like cells.
PMID: 26901847
Cancer Biol Ther Β· 2016
0.75
4
Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene.
PMID: 26423925
J Hum Genet Β· 2015
0.63
5
Kinesin light chain 4 as a new target for lung cancer chemoresistance via targeted inhibition of checkpoint kinases in the DNA repair network.
PMID: 32457423
Cell Death Dis Β· 2020
0.50