COL2A1（collagen type II alpha 1 chain），癌症关联基因，基因ID：1280，这个基因编码Ⅱ型胶原的α-1链，一种存在于软骨和眼玻璃体中的纤维状胶原。该基因突变与软骨发育不全、软骨发育不全、早发性家族性骨关节炎、SED先天性、Langer-Saldino软骨发育不全、Kniest发育不全、Stickler综合征Ⅰ型和脊椎骨发育不全Strudwick型相关此外，软骨钙素（一种钙结合蛋白，胶原分子的c-前肽）加工过程中的缺陷也与软骨发育不良有关。这个基因有两个转录本。[由RefSeq提供，2008年7月]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]。