The CCBE1 (Collagen and Calcium Binding EGF Domain-Containing Protein 1) gene codes for a protein that is supposed to be involved in extracellular matrix remodeling and migration. Experimental evidence in animal models indicates that this protein is required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis. The gene is expressed primarily in the ovaries. It is also speculated to be a tumor suppressor gene due to the observation of down-regulation of the gene in ovarian cancer cell lines.
Mutations in the CCBE1 gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized congenital lymphatic dysplasia characterized by intestinal and renal lymphangiectasia, dysmorphic facial appearance and intellectual deficit.