DSE

Chr 6q22.1

dermatan sulfate epimerase

Aliases:: DSEPI, DS-Epi1
MANE:: ENST00000644252.3

OMIM: 605942 ↗NCBI: 29940 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DSE · Q9UL01

v62025-08-01

Predicted Aligned Error matrix for DSE — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.6/ 100

Confident

958 residues

Confidence breakdown

Very high(≥ 90)70%
Confident(70–90)11%
Low(50–70)9%
Very low(< 50)9%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ehlers Danlos syndrome with a likely monogenic cause
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Ehlers-Danlos syndrome, musculocontractural type
0.74
sudden infant death-dysgenesis of the testes syndrome
0.48
hereditary disease
0.42
sprain
0.22
systemic lupus erythematosus
0.20
Ehlers-Danlos syndrome
0.19
edema
0.18
brain compression
0.18
celiac disease
0.08
central nervous system cancer
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Dermatan-sulfate epimerase

Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues. Plays an important role in the biosynthesis of the glycosaminoglycan/mucopolysaccharide dermatan sulfate