Aliases for DSE Gene
External Ids for DSE Gene
Previous HGNC Symbols for DSE Gene
Previous GeneCards Identifiers for DSE Gene
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]
GeneCards Summary for DSE Gene
DSE (Dermatan Sulfate Epimerase) is a Protein Coding gene. Diseases associated with DSE include Ehlers-Danlos Syndrome, Musculocontractural Type 2 and Ehlers-Danlos Syndrome, Musculocontractural Type. Among its related pathways are Defective B4GALT7 causes EDS, progeroid type and Metabolism. GO annotations related to this gene include chondroitin-glucuronate 5-epimerase activity. An important paralog of this gene is DSEL.
UniProtKB/Swiss-Prot for DSE Gene
Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues.