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 enable chondroitin-glucuronate 5-epimerase activity. Predicted to be involved in chondroitin sulfate metabolic process and dermatan sulfate metabolic process. Predicted to be located in membrane. Is expressed in head; immature eye; pectoral fin; and somite. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome musculocontractural type 2. 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