Basic information of KCNIP1 :
| Official Symbol of Gene | KCNIP1 |
| Species | Homo sapiens |
| Entrez Gene ID | 15521 |
| Official Full Name | potassium voltage-gated channel interacting protein 1 |
| Also known as | VABP; KCHIP1 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000182132 MIM:604660; AllianceGenome:HGNC:15521 |
| Map Location | 5q35.1 |
| Variation Type | SNP |
| refSNP ID | rs11957313 |
Sample information of multiple sclerosis:
| Detected Sample | brain |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | N/A |
| Sample Size | 179 MS cases |
Literature information of multiple sclerosis :
| Pubmed ID | 31228212 |
| Year | 2020 |
| Title | Post-mortem multiple sclerosis lesion pathology is influenced by single nucleotide polymorphisms |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | Three SNPs linked to MS clinical severity showed a significant association between the genotype and either the proportion of active lesions (rs2234978/FAS and rs11957313/KCNIP1) or the proportion of mixed active/inactive lesions (rs8056098/CLEC16A) |
| Mechanism/Pathway | This is in part because of the difficulty in the functional translation of genotype into disease-relevant mechanisms |
