靶标:
CCM2
产品别名:
C7orf22; OSM; PP10187; CCM2; CCM2 scaffold protein; CCM2 scaffold protein; cerebral cavernous malformations 2 protein; CCM2 scaffolding protein; cerebral cavernous malformation 2; malcavernin; osmosensing scaffold for MEKK3; 脑海绵状血管畸形蛋白2;
背景信息:
This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.