SpliceAtlasDB
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🧬 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

🔗 外部数据库链接