|Other Names||Malcavernin, Cerebral cavernous malformations 2 protein, CCM2, C7orf22|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions (By similarity). May function as a scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3- dependent p38 activation induced by hyperosmotic shock (By similarity).|
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This gene encodes a scaffold protein that functions in thestress-activated p38 Mitogen-activated protein kinase (MAPK)signaling cascade. The protein interacts with SMAD specific E3ubiquitin protein ligase 1 (also known as SMURF1) via aphosphotyrosine binding domain to promote RhoA degradation. Theprotein is required for normal cytoskeletal structure, cell-cellinteractions, and lumen formation in endothelial cells. Mutationsin this gene result in cerebral cavernous malformations. Multipletranscript variants encoding different isoforms have been found forthis gene.
Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)Rose, J.E., et al. Mol. Med. 16 (7-8), 247-253 (2010) :Stockton, R.A., et al. J. Exp. Med. 207(4):881-896(2010)Talmud, P.J., et al. Am. J. Hum. Genet. 85(5):628-642(2009)Harel, L., et al. Neuron 63(5):585-591(2009)
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