🧬 基因注释：EDNRB
📝 官方信息
官方名称：endothelin receptor type B
功能摘要：The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the endothelin receptor type B gene. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016].
🎯 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