基因名称：COL2A1 （collagen type II alpha 1 chain）
别名： AOM,ANFH,SEDC,STL1,COL11A3
基因ID：1280
Chromosome(GRCh37) ：12 Start: 48366748 End: 48398285 Strand:
信号通路：
靶向药：
化疗药：
简介：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]
COL2A1突变与药物：
