The CCBE1 gene provides instructions for making a protein that is found in the extracellular matrix, which is the lattice of proteins and other molecules that forms in the spaces between cells. Early in development, the CCBE1 protein is involved in the formation of the lymphatic system, which is a network of vessels that transport white blood cells (lymphocytes), nutrients, and proteins in a fluid called lymph.
The CCBE1 protein helps guide the maturation (differentiation) and movement (migration) of immature cells called lymphangioblasts that will eventually form the lining (epithelium) of lymphatic vessels. Additionally, the CCBE1 protein works with a protein produced from the ADAMTS3 gene to help regulate the activity of a protein called vascular endothelial growth factor receptor 3 (VEGFR3). VEGFR3 plays a key role in the development and maintenance of the lymphatic system.
Other Names
FLJ30681; KIAA1983
Related Genetics Topics
Identifiers
- NCBI Gene: 147372
- OMIM: 612753
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
