Gene: DSE

Alternate names for this Gene: DS-epi1|DSEP|DSEPI|EDSMC2|SART-2|SART2

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.

Gene is located in Chromosome: 6

Location in Chromosome : 6q22.1

Description of this Gene: dermatan sulfate epimerase

Type of Gene: protein-coding

rs6908915 in DSE gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2252790 in DSE gene and Brain Waves PMID 28040410 2017 A genome wide association study of fast beta EEG in families of European ancestry.

rs398122361 in DSE gene and EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 PMID 23704329 2013 Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.