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Type II Collagen

- See: collagen

- Discussion:
- accounts for over 50 percent of the dry wt of cartilage;
- type II collagen is also found in small amounts in vitreous gel and in a number of other tissues during early development;
- type II collagen mutations:
- mutations in type II collagen as a cause of chondrodysplasias:
- chondrodysplasias are highly heterogeneous group of heritable dzes of cartilage characterized by dwarfism, joint
deformities, and other skeletal anomalies;
- since the strength of cartilage depends largely on presence of fibrils of type II collagen, it is possible that some
chondro-dysplasias are caused by
mutations in type II procollagen that are similar to mutations in type I procollagen that cause osteogenesis imperfecta;
- specific disorders that may be caused by type II collagen mutations:
- spondyloepiphyseal dysplasia, Kniest dysplasia, and Stickler syndrome