Gene
dse
- ID
- ZDB-GENE-041001-202
- Name
- dermatan sulfate epimerase
- Symbol
- dse Nomenclature History
- Previous Names
-
- si:dkey-121j17.2
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to have chondroitin-glucuronate 5-epimerase activity. Predicted to be involved in chondroitin sulfate metabolic process and dermatan sulfate metabolic process. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome. Is expressed in head; immature eye; pectoral fin; and somite. Orthologous to human DSE (dermatan sulfate epimerase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Habicher et al., 2015
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Ehlers-Danlos syndrome musculocontractural type 2 | Alliance | Ehlers-Danlos syndrome, musculocontractural type 2 | 615539 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Chondroitin AC/alginate lyase | Dermatan-Sulfate Isomerase |
|---|---|---|---|
|
UniProtKB:Q5RGL8
|
949 |
Interactions and Pathways
No data available
Plasmids
No data available