CCBE1 Activators

CCBE1, which stands for Collagen And Calcium Binding EGF Domains 1, is a protein encoded by the CCBE1 gene and is crucial in the development and function of the lymphatic system. CCBE1 is a secreted protein that is particularly important during embryogenesis, where it contributes to the proper formation of lymphatic vessels, a process known as lymphangiogenesis.

The protein contains several domains indicative of its functions, including a signal peptide for secretion, two collagen-like domains, and a calcium-binding EGF-like domain. These domains suggest that CCBE1 plays a role in extracellular matrix organization and calcium-dependent signaling. The precise molecular function of CCBE1 is not fully elucidated, but it is known to enhance the lymphangiogenic effects of the growth factor VEGFC (Vascular Endothelial Growth Factor C) by facilitating its proteolytic cleavage and activation, which is essential for the proper signaling through the VEGFR3 receptor on lymphatic endothelial cells.Mutations in the CCBE1 gene have been associated with Hennekam syndrome, a rare genetic disorder characterized by lymphedema, lymphangiectasia, mental retardation, and facial dysmorphism. The connection between CCBE1 mutations and this syndrome underscores the protein's vital role in lymphatic development and function.