🧬 基因注释：COL11A1
📝 官方信息
官方名称：collagen type XI alpha 1 chain
功能摘要：This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009].
🎯 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