Human CCM-1

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Cat-Nr.300-054
Size20 µg
Price110 €
SourceE. coli
LabelHis-Tag
Formulationlyophilized
Purity Confirmation> 90% by SDS-PAGE & visualized by silver stain
Length [aa]335
Molecular Weight39 kDa
Biological ActivityNot determined yet.
Species ReactivityHuman
Buffer30mM NaCl. 50 mM NaP, pH 7.4
ReconstitutionHuman CCM1 should be reconstituted in water or other buffer solutions and stored at -20 °C.
Stability and StorageThe lyophilized human CCM1, though stable at room temperature, is best stored desiccated below 0 °C.
SynonymsCCM-1; Cerebral cavernous malformations protein 1; KRIT1; KRIT1, ankyrin repeat containing; CAM
DescriptionCerebral cavernous malformations (CCM) are frequent vascular abnormalities caused by mutations in one of the CCM genes. CCM-1 (also known as KRIT1) stabilizes endothelial junctions and is essential for vascular morphogenesis in mouse embryos. However, cellular functions of CCM-1 during the early steps of the CCM pathogenesis remain unknown. It was shown that CCM-1 represents an antiangiogenic protein to keep the human endothelium quiescent. CCM-1 inhibits endothelial proliferation, apoptosis, migration, lumen formation, and sprouting angiogenesis in primary human endothelial cells. CCM-1 strongly induces DLL4-NOTCH signaling, which promotes AKT phosphorylation but reduces phosphorylation of the mitogen-activated protein kinase ERK. Consistently, blocking of NOTCH activity alleviates CCM-1 effects. ERK phosphorylation is increased in human CCM lesions. Transplantation of CCM-1-silenced human endothelial cells into SCID mice recapitulates hallmarks of the CCM pathology and serves as a unique CCM model system.
Protein SequenceMLLKEAINKPYEKVRIYRMDGSYRSVELKHGNNTTVQQIMEGMRLSQETQQYFTIWICSENLSLQLKPYHKPLQHVRDWPEILAELTNLDPQRETPQLFLRRDVRLPLEVEKQIEDPLAILILFDEARYNLLKGFYTAPDAKLITLASLLLQIVYGNYESKKHKQGFLNEENLKSIVPVTKLKSKAPHWTNRILHEYKNLSTSEGVSKEMHHLQRMFLQNCWEIPTYGAAFFTGQIFTKASPSNHKVIPVYVGVN
Uniprot IDO00522
Protein RefSeqNP_004903.2
mRNA RefSeqNM_004912.3

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