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]

基因名:COL2A1
别名:AOM,ANFH,SEDC,STL1,COL11A3
基因ID:1280
Chromosome:
(GRCh37)
12 Start: 48366748 End: 48398285 Strand: 
信号通路:  
COL2A1 基因突变与药物

相关基因检测