Gene Symbol | DSE |
Entrez Gene ID | 29940 |
Full Name | dermatan sulfate epimerase |
Synonyms | DS-epi1,DSEP,DSEPI,EDSMC2,SART-2,SART2 |
General protein information |
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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) |