🧬 基因注释：SERPING1
📝 官方信息
官方名称：serpin family G member 1
功能摘要：This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its encoded protein, C1 inhibitor, inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. It is synthesized in the liver, and its deficiency is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, May 2020].
🏥 关联疾病
该基因暂无关联疾病记录