| Gene Symbol | DSE |
| Entrez Gene ID | 29940 |
| Full Name | dermatan sulfate epimerase |
| Synonyms | DS-epi1,DSEP,DSEPI,EDSMC2,SART-2,SART2 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | The protein encoded by this gene is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of dermatan sulfate. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. Mutations in this gene cause inmusculocontractural Ehlers-Danlos syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 9, and a paralogous gene exists on chromosome 18. [provided by RefSeq, Apr 2016]. |
| Disorder MIM: | |
| Disorder Html: | Ehlers-Danlos syndrome, musculocontractural type 2, 615539 (3) |









































User Manual