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 have sphingolipid delta-4 desaturase activity. Predicted to be involved in ceramide biosynthetic process. Predicted to localize to endoplasmic reticulum; endoplasmic reticulum membrane; and integral component of membrane. Used to study hypomyelinating leukodystrophy. Human ortholog(s) of this gene implicated in hypomyelinating leukodystrophy. Is expressed in nervous system; neural crest; notochord; pronephric duct; and yolk syncytial layer. 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