Description
Background: This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humorof the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familialosteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, andspondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium bindingprotein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are twotranscripts identified for this gene