DSE Chromosome 6
Dermatan sulfate epimerase
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What This Gene Does
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]
Associated Conditions (5)
Ehlers-Danlos syndrome
musculocontractural type 2
Inborn genetic diseases
DSE-related disorder
See cases
Key Variants
RS113277624
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, musculocontractural type 2, Ehlers-Danlos syndrome
Health Risk
RS145999978
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, musculocontractural type 2, Ehlers-Danlos syndrome
Health Risk
RS147451395
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, musculocontractural type 2, Ehlers-Danlos syndrome
Health Risk
RS150939596
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, musculocontractural type 2, Ehlers-Danlos syndrome
Health Risk
RS181711422
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, musculocontractural type 2, Inborn genetic diseases
Health Risk
RS371043332
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, musculocontractural type 2, Inborn genetic diseases
Health Risk
RS371480627
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, musculocontractural type 2, Ehlers-Danlos syndrome
Health Risk
RS535021192
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, musculocontractural type 2, DSE-related disorder
Health Risk
RS550208733
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, musculocontractural type 2, Inborn genetic diseases
Health Risk
RS61741781
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, musculocontractural type 2, DSE-related disorder
Health Risk
RS763584486
Conflicting classifications of pathogenicity
Health Risk
RS773416085
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, musculocontractural type 2, Ehlers-Danlos syndrome
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113277624 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type 2, Ehlers-Danlos syndrome |
| RS145999978 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type 2, Ehlers-Danlos syndrome |
| RS147451395 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type 2, Ehlers-Danlos syndrome |
| RS150939596 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type 2, Ehlers-Danlos syndrome |
| RS181711422 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type 2, Inborn genetic diseases |
| RS371043332 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type 2, Inborn genetic diseases |
| RS371480627 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type 2, Ehlers-Danlos syndrome |
| RS535021192 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type 2, DSE-related disorder |
| RS550208733 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type 2, Inborn genetic diseases |
| RS61741781 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type 2, DSE-related disorder |
| RS763584486 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS773416085 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type 2, Ehlers-Danlos syndrome |
| RS779169990 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type 2, Ehlers-Danlos syndrome |
| RS953029145 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, musculocontractural type 2, Ehlers-Danlos syndrome |
| RS1784207138 | Health Risk | Likely pathogenic | See cases, See cases |
| RS199731077 | Health Risk | Likely pathogenic | — |
| RS2482082556 | Health Risk | Likely pathogenic | — |
| RS2482086431 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, musculocontractural type 2, Ehlers-Danlos syndrome |
| RS2482304968 | Health Risk | Likely pathogenic | — |
| RS1554227382 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, musculocontractural type 2, Ehlers-Danlos syndrome |
| RS1781476734 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2482243158 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, musculocontractural type 2, Ehlers-Danlos syndrome |
| RS398122361 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, musculocontractural type 2, Ehlers-Danlos syndrome |