Home Details
| 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 |
| 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 |
| 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 |
| 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. |

2023,CopyRight © HMU. College of Bioinformatics Science and Technology, Harbin, China.