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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: cerebral cavernous malformation 2; Cerebral cavernous malformations 2 protein; Malcavernin; MGC4067; MGC4607; MGC74868; Oncostatin; OncostatinM; osmosensing scaffold for MEKK3
基因别名: C7orf22; CCM2; OSM; PP10187
UniProt ID: (Human) Q9BSQ5
Entrez Gene ID: (Human) 83605