The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1 µg/ml. Predicted molecular weight: 44 kDa. Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
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.