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Basic information of KLC1 :

Official Symbol of Gene KLC1
Species Homo sapiens
Entrez Gene ID 3831
Official Full Name kinesin light chain 1
Also known as KLC; KNS2; KNS2A
Gene Type protein coding
dbXrefs Ensembl:ENSG00000126214 MIM:600025; AllianceGenome:HGNC:6387
Map Location 14q32.33
Variation Type SNP
refSNP ID rs8702

Sample information of multiple sclerosis:

Detected Sample peripheral blood
Sample Detail N/A
Detected Method PCR
Disease MS
Disease subtype RRMS
Population Caucasian
Sample Size 102 RRMS patients / 207 neuroimaging alteration-free controls

Literature information of multiple sclerosis :

Pubmed ID 17999208
Year 2007
Title A cytoskeleton motor protein genetic variant may exert a protective effect on the occurrence of multiple sclerosis: the janus face of the kinesin light-chain 1 56836CC genetic variant

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result The homozygous variant KLC1 56836CC occurred significantly less frequently in the MS group than in the controls. The homozygous variant KLC1 56836CC proved to be protective as concerns the frequency of MS.
Mechanism/Pathway This genetic variant was found to be associated with cognitive disturbances and neurodegeneration, and it was presumed to affect the kinesin function. Kinesin serves as a main cytoskeleton motor protein by carrying mitochondria and the molecular apparatus of myelin basic protein synthesis.