DSE

Chr 6

dermatan sulfate epimerase

Also known as: DS-epi1, DSEP, DSEPI, EDSMC2, SART-2, SART2

NCBI Gene: 29940 ENSG00000111817 UniProt: Q9UL01

The protein converts D-glucuronic acid to L-iduronic acid during dermatan sulfate biosynthesis in the endoplasmic reticulum. Mutations cause musculocontractural Ehlers-Danlos syndrome type 2, characterized by joint contractures and connective tissue abnormalities. This condition follows autosomal recessive inheritance, and the gene shows significant constraint against loss-of-function variants (LOEUF 0.377).

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEhlers-Danlos syndrome, musculocontractural type 2

Clinical highlights

Gene-disease validity (ClinGen)

Ehlers-Danlos syndrome, musculocontractural type 2 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

239

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.38

LOEUF

LOF

Mechanism· G2P

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