The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Protein concentration is above or equal to 0.05 mg/ml.
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Preparation and Storage
Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00 Constituents: 0.31% Glutathione, 0.79% Tris HCl
Collagen and calcium binding EGF domain containing protein 1
Collagen and calcium binding EGF domains 1
Collagen and calcium-binding EGF domain-containing protein 1
Full of fluid protein homolog
Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis.
Not expressed in blood or lymphatic endothelial cells.
Involvement in disease
Defects in CCBE1 are the cause of Hennekam lymphangiectasia-lymphedema syndrome (HLYLMP) [MIM:235510]. HLYLMP is a generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and severe mental retardation.
Belongs to the CCBE1 family. Contains 2 collagen-like domains. Contains 1 EGF-like domain.