靶标：
COL2A1
产品别名：
ANFH； AOM； COL11A3； SEDC； STL1； COL2A1； collagen type II alpha 1 chain； collagen type II alpha 1 chain； collagen alpha-1(II) chain； alpha-1 type II collagen； arthroophthalmopathy, progressive (Stickler syndrome)； cartilage collagen； chondrocalcin； collagen II, alpha-1 polypeptide； collagen, type II, alpha 1； Ⅱ型胶原α1 N端前体肽； Ⅱ型胶原α1(COL2a1)； Ⅱ型胶原α1蛋白/软骨钙素； Ⅱ型胶原蛋白；
背景信息：
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],
