DSE, Official Symbol DSEprovided by HGNC Official Full Name dermatan sulfate epimeraseprovided by HGNC Primary source HGNC:HGNC:21144 See related Ensembl:ENSG00000111817 MIM:605942; AllianceGenome:HGNC:21144 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DSEP; DSEPI; SART2; EDSMC2; SART-2; DS-epi1 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] Expression Ubiquitous expression in appendix (RPKM 7.0), fat (RPKM 5.7) and 25 other tissues See more Orthologs mouse all