🧬 基因注释:CPAMD8
📝 官方信息
官方名称:C3 and PZP like alpha-2-macroglobulin domain containing 8
功能摘要:This gene encodes a member of the protease inhibitor I39 (alpha-2-macroglobulin) family of proteins. These proteins are important in innate and acquired immunity. The encoded protein is membrane-associated and proteolytically processed to generate two chains. Mutations in this gene cause a form of anterior segment dysgenesis, a developmental disorder of the eye. [provided by RefSeq, May 2017].
🎯 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