CCBE1

CCBE1 is a gene that in humans is encoded by the CCBE1 (Collagen And Calcium Binding EGF Domains 1) protein. This gene is located on chromosome 18 and is known to play a crucial role in the development of the lymphatic system. Mutations in this gene have been associated with Hennekam syndrome, a rare congenital disorder characterized by lymphedema, lymphangiectasias, mental retardation, and distinctive facial features.

Function

The CCBE1 protein is a secreted protein that is involved in the regulation of lymphangiogenesis, the process by which new lymphatic vessels form from pre-existing vessels. It is believed to function by enhancing the activity of VEGF-C, a growth factor that promotes the growth of lymphatic vessels. The exact mechanism by which CCBE1 regulates VEGF-C is still under investigation.

Clinical Significance

Mutations in the CCBE1 gene can lead to Hennekam syndrome, a disorder that affects the lymphatic system. Symptoms of this syndrome include lymphedema (swelling due to lymphatic obstruction), lymphangiectasias (abnormal dilation of the lymphatic vessels), mental retardation, and distinctive facial features. There is currently no cure for Hennekam syndrome, and treatment is focused on managing the symptoms.

Research

Research into the CCBE1 gene and its associated protein is ongoing. Understanding the function of this gene and its role in lymphangiogenesis could lead to new treatments for diseases of the lymphatic system, including lymphedema and lymphatic malformations.

See Also

• VEGF-C
• Hennekam syndrome
• Lymphangiogenesis
• Lymphatic system