🧬 基因注释：CLDN5
📝 官方信息
官方名称：claudin 5
功能摘要：This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets. Mutations in this gene have been found in patients with velocardiofacial syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018].
🎯 作为靶基因的剪接因子
- MBNL2 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录