Description
| Product Name: | Human CCM2 Recombinant Protein |
| Product Code: | RPPB2991 |
| Size: | 10µg |
| Species: | Human |
| Target: | CCM2 |
| Synonyms: | Cerebral Cavernous Malformation 2, C7orf22, malcavernin, CerebralCavernous Malformations 2 Protein, Chromosome 7 Open Reading Frame 22, OSM, MGC4067. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered clear solution. |
| Formulation: | CCM2 protein solution (0.5mg/ml) containing 20mM Tris-HCl buffer (pH8.0), 20% glycerol and1mM DTT. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time.For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Please avoid freeze thaw cycles. |
| Purity: | Greaterthan 90.0% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MGSEVKYLGQ LTSIPGYLNP SSRTEILHFI DNAKRAHQLP GHLTQEHDAVLSLSAYNVKL AWRDGEDIIL RVPIHDIAAV SYVRDDAAHL VVLKTDDSST KVDIKETYEV EASTFCFPESVDVGGASPHS KTISESELSA SATELLQDYM LTLRTKLSSQ EIQQFAALLH EYRNGASIHE FCINLRQLYG DSRKFLLLGL RPFIPEKDSQHFENFLETIG VKDGRGIITD SFGRHRRALS TTSSSTTNGN RATGSSDDRS APSEGDEWDR MISDISSDIEALGCSMDQDS A |
CerebralCavernous Malformation 2, also known as CCM2 is a piece of the CCM signalingpathway which is a vital regulator of heart and vessel formation as well asintegrity. CCM2 performs through the stabilization of endothelial celljunctions. In addition, CCM2 functions as a scaffold protein for MAP2K3-MAP3K3signaling. CCM2 plays a key role in the modulation of MAP3K3-dependent p38activation induced by hyperosmotic shock. Mutations in CCM2 result in cerebralcavernous malformations. Multiple transcript variants encoding dissimilarisoforms have been discoveredfor CCM2.
CCM2 Human Recombinant produced in E.Coli is a single,non-glycosylated polypeptide chain containing 311 amino acids (66-353 a.a) andhaving a molecular mass of 34.3kDa.CCM2 is fused to a 23 amino acid His-tag at N-terminus& purified by proprietary chromatographic techniques.
| UniProt Protein Function: | CCM2: 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. 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. Defects in CCM2 are the cause of cerebral cavernous malformations type 2 (CCM2). Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. CCMs have an incidence of 0.1%-0.5% in the general population and are usually present clinically during the 3rd to 5th decades of life. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. 2 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Motility/polarity/chemotaxis; Adaptor/scaffold Chromosomal Location of Human Ortholog: 7p13 Cellular Component: protein complex; cytoplasm Molecular Function:protein binding Biological Process: integrin-mediated signaling pathway; intercellular junction assembly and maintenance; pericardium development; venous blood vessel morphogenesis; in utero embryonic development; multicellular organism growth; stress-activated MAPK cascade; vasculogenesis; inner ear development; endothelial cell development Disease: Cerebral Cavernous Malformations 2 |
| NCBI 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 transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009] |
| UniProt Code: | Q9BSQ5 |
| NCBI GenInfo Identifier: | 74733042 |
| NCBI Gene ID: | 83605 |
| NCBI Accession: | Q9BSQ5.1 |
| UniProt Secondary Accession: | Q9BSQ5,Q71RE5, Q8TAT4, A4D2L4, B3KUV0, D3DVL4, E9PDJ3 F5H0E1, F5H551, |
| UniProt Related Accession: | Q9BSQ5 |
| Molecular Weight: | 444 |
| NCBI Full Name: | Malcavernin |
| NCBI Synonym Full Names: | cerebral cavernous malformation 2 |
| NCBI Official Symbol: | CCM2�� |
| NCBI Official Synonym Symbols: | OSM; C7orf22; PP10187�� |
| NCBI Protein Information: | malcavernin; cerebral cavernous malformations 2 protein |
| UniProt Protein Name: | Malcavernin |
| UniProt Synonym Protein Names: | Cerebral cavernous malformations 2 protein |
| Protein Family: | Cerebral cavernous malformations protein |
| UniProt Gene Name: | CCM2�� |
| UniProt Entry Name: | CCM2_HUMAN |
