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 larval locomotory behavior; skeletal muscle fiber development; and thigmotaxis. Predicted to be active in collagen-containing extracellular matrix. Is expressed in several structures, including digestive system; fin; head; integument; and muscle. Used to study Bethlem myopathy; Ullrich congenital muscular dystrophy; congenital muscular dystrophy; and muscular dystrophy. Human ortholog(s) of this gene implicated in Bethlem myopathy and Ullrich congenital muscular dystrophy 1A. 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