Gene
spg11
- ID
- ZDB-GENE-101017-1
- Name
- SPG11 vesicle trafficking associated, spatacsin
- Symbol
- spg11 Nomenclature History
- Previous Names
-
- spatacsin (1)
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Involved in axonogenesis; swimming behavior; and thigmotaxis. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2X; amyotrophic lateral sclerosis type 5; and hereditary spastic paraplegia 11. Is expressed in brain and notochord. Orthologous to human SPG11 (SPG11 vesicle trafficking associated, spatacsin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| amyotrophic lateral sclerosis type 5 | Alliance | Amyotrophic lateral sclerosis 5, juvenile | 602099 |
| Charcot-Marie-Tooth disease axonal type 2X | Alliance | Charcot-Marie-Tooth disease, axonal, type 2X | 616668 |
| hereditary spastic paraplegia 11 | Alliance | Spastic paraplegia 11, autosomal recessive | 604360 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Spatacsin | Spatacsin, C-terminal domain |
|---|---|---|---|
|
UniProtKB:D4HMK9
|
1248 | ||
|
UniProtKB:D4HMK8
|
2379 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available