产品描述：

background: 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. [provided by RefSeq,

Jul 2008]