Basic information of KIF5A :
| Official Symbol of Gene | KIF5A |
| Species | Homo sapiens |
| Entrez Gene ID | 3798 |
| Official Full Name | kinesin family member 5A |
| Also known as | NKHC; ALS25; MY050; NEIMY; SPG10; D12S1889 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000155980 MIM:602821; AllianceGenome:HGNC:6323 |
| Map Location | 12q13.3 |
| Variation Type | SNP |
| refSNP ID | rs703842 |
Sample information of multiple sclerosis:
| Detected Sample | CSF supernatant |
| Sample Detail | N/A |
| Detected Method | real-time PCR |
| Disease | MS |
| Disease subtype | CIS-MS,RRMS,PPMS,SPMS |
| Population | N/A |
| Sample Size | 106 cases |
Literature information of multiple sclerosis :
| Pubmed ID | 33484325 |
| Year | 2021 |
| Title | KIF5A and the contribution of susceptibility genotypes as a predictive biomarker for multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Phenotypic risk |
| Main Result | Positive |
| Result | Multivariate analysis showed a significant effect of patient rs703842 genotype (AA vs AG) on CSF KIF5A levels, alongside disease subtype and a range of independent cohort variables. |
| Mechanism/Pathway | Both hypo- and hyper- phosphorylation of NFs within axons are recognised as pathological hallmarks of MS and it is believed dysregulated axonal transport could be a catalyst for aberrant protein phosphorylation and accumulation.The majority of anterograde axonal transport is governed by kinesin superfamily motor proteins (KIFs). KIF5A is the main kinesin subtype involved in anterograde transport of phosphorylated NFs. |
