An extracellular matrix structural constituent conferring tensile strength. Predicted to be involved in several processes, including collagen fibril organization; endothelial cell morphogenesis; and notochord development. Predicted to act upstream of or within extracellular matrix organization and growth plate cartilage chondrocyte development. Located in collagen-containing extracellular matrix.
RGD Description
This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]