|Other Names||Collagen and calcium-binding EGF domain-containing protein 1, Full of fluid protein homolog, CCBE1, KIAA1983|
|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||Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis.|
|Tissue Location||Not expressed in blood or lymphatic endothelial cells.|
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This gene is thought to function in extracellular matrixremodeling and migration. It is predominantly expressed in theovary, but down regulated in ovarian cancer cell lines and primarycarcinomas, suggesting its role as a tumour suppressor. Mutationsin this gene have been associated with Hennekamlymphangiectasia-lymphedema syndrome, a generalized lymphaticdysplasia in humans.
Rose, J.E., et al. Mol. Med. 16 (7-8), 247-253 (2010) :Connell, F., et al. Hum. Genet. 127(2):231-241(2010)Barton, C.A., et al. Br. J. Cancer 102(1):87-96(2010)Alders, M., et al. Nat. Genet. 41(12):1272-1274(2009)Hogan, B.M., et al. Nat. Genet. 41(4):396-398(2009)
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