COL2s
Fibril-forming collagens
The collagens fall into 2 major classes: the fibril-forming collagens and the nonfibril-forming collagens.
A long central triple-helical domain, without gly-Xaa-Xaa interruptions, is the hallmark of the fibril-forming collagens. Are members of this class:
collagens type I (COL1s)
collagens type II (COL2s)
collagens type III (COL3S)
collagens type V (COL5s)
collagens type XI (COL9s), which form highly organized fibrils in a quarter-staggered fashion
Pathology
germline mutaions of COL2A1 in:
- autosomal dominant spondyloepiphyseal dysplasia congenita (MIM.183900)
- type II achondrogenesis-hypochondrogenesis (MIM.200610)
- osteoarthritis associated with mild chondrodysplasia (MIM.604864)
- spondyloepiphyseal dysplasia (MIM.183900)
- type I Stickler syndrome (MIM.108300)
- Kniest dysplasia (MIM.156550)
- Wagner syndrome (MIM.143200)
- Torrance type of platyspondylic skeletal dysplasia (MIM.151210)
- spondyloperipheral dysplasia (MIM.271700)