Basic information of DDX39B :
| Official Symbol of Gene | DDX39B |
| Species | Homo sapiens |
| Entrez Gene ID | 7919 |
| Official Full Name | DExD-box helicase 39B |
| Also known as | BAT1; UAP56; D6S81E |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000198563 MIM:142560; AllianceGenome:HGNC:13917 |
| Map Location | 6p21.33 |
Sample information of multiple sclerosis:
| Detected Sample | blood |
| Sample Detail | CD4 T cells |
| Detected Method | Western blot |
| Disease | MS |
| Disease subtype | N/A |
| Population | N/A |
| Sample Size | N/A |
Literature information of multiple sclerosis :
| Pubmed ID | 28340352 |
| Year | 2017 |
| Title | Human Epistatic Interaction Controls IL7R Splicing and Increases Multiple Sclerosis Risk |
Results of multiple sclerosis :
| Expression | down-regulation |
| Risk type | Disease risk |
| Result | Indeed, we showed that a genetic variant in the 5' UTR of DDX39B reduces translation of DDX39B mRNAs and increases MS risk. |
| Mechanism/Pathway | Lastly, our studies uncovered a protective role for DDX39B in the pathogenesis of MS, wherein decreased DDX39B expression results in up-regulation of sIL7R via skipping of IL7R exon 6. |
