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.[provided by RefSeq, Nov 2009]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| CCM2-20-RE | 20 (40 μL) | 200 μL |  |
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| CCM2-20-OR | 20 (40 μL) | 200 μL |  |
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| CCM2-20-GO | 20 (40 μL) | 200 μL |  |
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| CCM2-20-GR | 20 (40 μL) | 200 μL |  |
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| CCM2-20-AQ | 20 (40 μL) | 200 μL |  |
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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.[provided by RefSeq, Nov 2009]
Gene Symbol : CCM2
Gene Name : CCM2 scaffolding protein
Chromosome : CHR 7: 449,997,45-450,764,69
Locus : 7p13
Alt. Genes : ZNF263
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