- 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;
