Gene
sgca
- ID
- ZDB-GENE-041111-121
- Name
- sarcoglycan, alpha
- Symbol
- sgca Nomenclature History
- Previous Names
-
- im:7140706
- im:7165146
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to have calcium ion binding activity. Predicted to localize to sarcoglycan complex. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2D and muscular dystrophy. Is expressed in several structures, including adaxial cell; alar plate midbrain region; brain; cardiovascular system; and musculature system. Orthologous to human SGCA (sarcoglycan alpha).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7140706 (1 image)
- IMAGE:7165146 (16 images)
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 |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy type 2D | Alliance | Muscular dystrophy, limb-girdle, autosomal recessive 3 | 608099 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Cadherin-like superfamily | Sarcoglycan alpha/epsilon | Sarcoglycan alpha/epsilon, N-terminal domain | Sarcoglycan alpha/epsilon second domain |
|---|---|---|---|---|---|
|
UniProtKB:F8W4K0
|
377 |
Interactions and Pathways
No data available
Plasmids
No data available