Collagen, type VI, alpha 2

Collagen alpha-2(VI) chain is a protein that in humans is encoded by the COL6A2 gene.

Function

This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Pathogenic variants in this gene are associated with collagen VI-related dystrophies, a spectrum of disorders that includes Bethlem muscular dystrophy, intermediate collagen VI-related dystrophy, and Ullrich congenital muscular dystrophy. Certain biallelic COL6A2 variants have also been associated with a phenotype referred to as myosclerosis. Three transcript variants have been identified for this gene.

References

Further reading

External links GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview