Aliases for COL6A1 Gene
External Ids for COL6A1 Gene
Previous GeneCards Identifiers for COL6A1 Gene
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]
GeneCards Summary for COL6A1 Gene
COL6A1 (Collagen Type VI Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL6A1 include Ullrich Congenital Muscular Dystrophy 1 and Bethlem Myopathy 1. Among its related pathways are Collagen biosynthesis and modifying enzymes and RET signaling. GO annotations related to this gene include platelet-derived growth factor binding. An important paralog of this gene is COL6A2.
UniProtKB/Swiss-Prot for COL6A1 Gene
Collagen VI acts as a cell-binding protein.