collagen, type VI, alpha 1
The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]
Gene aliases
OPLL
Chromosome
21
Map location
21q22.3
Gene type
protein-coding
Gene Ontology (GO) terms enrichment
Database references
Statistics for COL6A1
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Sequence variants for COL6A1
List of cell lines/tissues that have COL6A1 sequence variants
List of pathways where COL6A1 is involved
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Protein-Protein Interaction Network for COL6A1
Network key
Number of sequence variations per gene
Protein identification for COL6A1
Browse by protein identification methods
| Identification method | Quantitative data available |
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