Gene
degs1
- ID
- ZDB-GENE-030131-5283
- Name
- delta(4)-desaturase, sphingolipid 1
- Symbol
- degs1 Nomenclature History
- Previous Names
-
- degs (1)
- fb81d06
- im:6909319
- wu:fa25h01
- wu:fb81d06
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable sphingolipid delta-4 desaturase activity. Predicted to be involved in ceramide biosynthetic process. Predicted to act upstream of or within sphingolipid biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Is expressed in nervous system; neural crest; notochord; pronephric duct; and yolk syncytial layer. Used to study hypomyelinating leukodystrophy. Human ortholog(s) of this gene implicated in hypomyelinating leukodystrophy. Orthologous to human DEGS1 (delta 4-desaturase, sphingolipid 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:63989 (14 images)
- IMAGE:6909319 (8 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Pant et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hypomyelinating leukodystrophy 18 | Alliance | Leukodystrophy, hypomyelinating, 18 | 618404 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| hypomyelinating leukodystrophy | ck1Tg + MO2-degs1 | standard conditions | Pant et al., 2019 |
| hypomyelinating leukodystrophy | AB/TU + MO2-degs1 | standard conditions | Pant et al., 2019 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Fatty acid desaturase domain | Sphingolipid delta4-desaturase | Sphingolipid delta4-desaturase, N-terminal |
|---|---|---|---|---|
|
UniProtKB:Q7T3B5
|
323 |
Interactions and Pathways
No data available
Plasmids
No data available