Basic information of TARDBP :
| Official Symbol of Gene | TARDBP |
| Species | Homo sapiens |
| Entrez Gene ID | 23435 |
| Official Full Name | TAR DNA binding protein |
| Also known as | ALS10; TDP-43 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000120948 MIM:605078; AllianceGenome:HGNC:11571 |
| Map Location | 1p36.22 |
| Variation Type | mutation |
| refSNP ID | Ala382Thr |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | Sardinian |
| Sample Size | 1833 MS patients / 1475 HCs |
Literature information of multiple sclerosis :
| Pubmed ID | 26233805 |
| Year | 2015 |
| Title | A genetic association study of two genes linked to neurodegeneration in a Sardinian multiple sclerosis population: the TARDBP Ala382Thr mutation and C9orf72 expansion |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | No difference in its frequency between MS patients and HCs was observed. |
| Mechanism/Pathway | This protein is an ubiquitous and heterogeneous nuclear ribonucleoprotein involved in the prevention of the neurodegeneration by gene expression regulation, including RNA splicing and transport |
