🧬 基因注释：C1R
📝 官方信息
官方名称：complement C1r
功能摘要：This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018].
🏥 关联疾病
该基因暂无关联疾病记录