🧬 基因注释：AQP2
📝 官方信息
官方名称：aquaporin 2
功能摘要：This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008].
🎯 作为靶基因的剪接因子
- Srsf7 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录