基因名称：COL11A1 （collagen type XI alpha 1 chain）
别名： STL2,COLL6,CO11A1,DFNA37
基因ID：1301
Chromosome(GRCh37) ：1 Start: 103342023 End: 103574052 Strand:
信号通路：
靶向药：
化疗药：
简介：这个基因编码xi型胶原的两个α链中的一个，一个小纤维胶原。xi型胶原是异三聚体，但第三α链是翻译后修饰的α1型ii链。该基因突变与ii型stickler综合征和marshall综合征有关。该基因的单核苷酸多态性也与腰椎间盘突出症的易感性有关。已鉴定出该基因的多个转录变体。[由RefSeq提供，2009年11月]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]
COL11A1突变与药物：
