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Overview
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Background
Collagens (COLs) are fibrous, extracellular matrix proteins with high tensile strength that function as the major components of connective tissue, such as tendons and cartilage. All COL proteins contain a triple helix domain and frequently show lateral self-association in order to form complex connective tissues. Existing as a trimer with two other type VI alpha proteins, COL6A2 acts as a cell-binding protein that plays an important role in the organization of matrix components. Defects in the gene encoding COL6A2 are associated with Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). Multiple isoforms of COL6A2 exist due to alternative splicing events.
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