CCM2

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolCCM2
NameCCM2 scaffold protein
Typeprotein-coding
Sourcemygene

Summary

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

This is an externally resolved entity

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