🧬 基因注释：PKD1L2
📝 官方信息
官方名称：polycystin 1 like 2 (gene/pseudogene)
功能摘要：This gene encodes a member of the polycystin protein family. This protein may function as a G-protein-coupled component or regulator of cation channel pores. The long isoform of this protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene is a polymorphic pseudogene in humans. [provided by RefSeq, May 2022].
🎯 作为靶基因的剪接因子
- Srsf3 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录