The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Application notesWB: 1/500 - 1/1000. Detects a band of approximately 27 kDa (predicted molecular weight for isoform 3: 23 kDa).
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
FunctionRequired for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis.
Tissue specificityNot expressed in blood or lymphatic endothelial cells.
Involvement in diseaseDefects 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.
Sequence similaritiesBelongs to the CCBE1 family. Contains 2 collagen-like domains. Contains 1 EGF-like domain.