| ncRNA Symbol: | DSE |
| Full Name: | dermatan sulfate epimerase |
| Category: | mRNA |
| Synonyms: | DS-epi1|DSEP|DSEPI|EDSMC2|SART-2|SART2 |
| Chromosome: | chr6 |
| Strand: | + |
| Coordinate: | | Start Site(bp): | 116254173 | End Site(bp): | 116444860 |
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| 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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