背景
This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage
and the vitreous humor of the eye. Mutations in this gene are associated with
achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita,
Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and
spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing
chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule,
are also associated with chondrodysplasia. There are two transcripts identified for this gene.
