| Protein Name | dermatan sulfate epimerase |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 29940 |
| Gene Symbol | DSE |
| UniProt | Q9UL01 (DSE_HUMAN), A0A2R8YE23 (A0A2R8YE23_HUMAN), A0A2U3TZJ0 (A0A2U3TZJ0_HUMAN), B7Z1T3 (B7Z1T3_HUMAN), B7Z765 (B7Z765_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
20
Total Number of Articles : 19 |
Description |
dermatan sulfate epimerase |
| Gene 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] |
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| Properties | |