Gene
col6a1
- ID
- ZDB-GENE-070501-6
- Name
- collagen, type VI, alpha 1
- Symbol
- col6a1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Acts upstream of or within locomotory behavior and skeletal muscle tissue development. Is expressed in several structures, including caudal fin; dermis; inner ear; mandibular arch skeleton; and pleuroperitoneal region. Used to study Bethlem myopathy and congenital muscular dystrophy. Human ortholog(s) of this gene implicated in Bethlem myopathy and Ullrich congenital muscular dystrophy. Orthologous to human COL6A1 (collagen type VI alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 24 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bethlem myopathy | Alliance | Bethlem myopathy 1A | 158810 |
| Ullrich congenital muscular dystrophy 1A | Alliance | Ullrich congenital muscular dystrophy 1A | 254090 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col6a1-201
(1)
|
Ensembl | 5,637 nt |
Interactions and Pathways
No data available
Plasmids
No data available