Basic information of LMNB1 :
| Official Symbol of Gene | LMNB1 |
| Species | Homo sapiens |
| Entrez Gene ID | 4001 |
| Official Full Name | lamin B1 |
| Also known as | LMN; ADLD; LMN2; LMNB; MCPH26 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000113368 MIM:150340; AllianceGenome:HGNC:6637 |
| Map Location | 5q23.2 |
| Variation Type | Allele |
| refSNP ID | NA |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | NA |
| Detected Method | qPCR |
| Disease | MS |
| Disease subtype | RRMS/PPMS/SPMS |
| Population | Italian |
| Sample Size | 182MS |
Literature information of multiple sclerosis :
| Pubmed ID | 19348623 |
| Year | 2009 |
| Title | Mutations in the lamin B1 gene are not present in multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | Our work indicates that lamin B1 defects are probably not responsible for signs and symptoms resembling multiple sclerosis. |
| Mechanism/Pathway | Whole gene duplication of the lamin B1 gene (LMNB1), encoding for a protein of the nuclear lamina, causes an adult-onset autosomal dominant leukodys-trophy (ADLD). |
