🧬 基因注释:COL3A1
📝 官方信息
官方名称:collagen type III alpha 1 chain
功能摘要:This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. [provided by R. Dalgleish, Feb 2008].
🎯 作为靶基因的剪接因子
🏥 关联疾病
该基因暂无关联疾病记录