Basic information of DKC1 :
| Official Symbol of Gene | DKC1 |
| Species | Homo sapiens |
| Entrez Gene ID | 1736 |
| Official Full Name | dyskerin pseudouridine synthase 1 |
| Also known as | DKC; CBF5; DKCX; NAP57; NOLA4; XAP101 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000130826 MIM:300126; AllianceGenome:HGNC:2890 |
| Map Location | Xq28 |
| Variation Type | SNP |
| refSNP ID | rs121912302 |
Sample information of multiple sclerosis:
| Detected Sample | N/A |
| Sample Detail | X chromosome |
| Detected Method | Diseases 10th Revision (World Health O, 2004) code G48 ，PLINK |
| Disease | MS |
| Disease subtype | N/A |
| Population | UK |
| Sample Size | Genomic data for the X chromosome was obtained from the UK Biobank data field 22,431. |
Literature information of multiple sclerosis :
| Pubmed ID | 35905688 |
| Year | 2022 |
| Title | X-linked genetic risk factors that promote autoimmunity and dampen remyelination are associated with multiple sclerosis susceptibility |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | concurrent disruption of both myelination and immune systems significantly increases the risk of MS onset in women |
| Mechanism/Pathway | other |
