DLL4 : delta like canonical Notch ligand 4
The DLL4 Gene: A Key Player in Blood Vessel Development and Beyond
Description
The DLL4 (Delta-like 4) gene encodes a protein that plays a crucial role in the Notch signaling pathway, a pathway essential for normal development in the body. This protein, also known as DLL4, acts as a signal sender that triggers a cascade of events, affecting cell behavior and tissue formation.
Specifically, DLL4 binds to a receptor protein called Notch1, initiating the Notch signaling pathway. This pathway influences various cell functions, including cell differentiation, proliferation, and apoptosis (cell death).
Associated Diseases
Mutations in the DLL4 gene can disrupt the Notch signaling pathway, leading to a range of developmental disorders and blood vessel abnormalities. These conditions include:
- Arteriovenous malformations (AVMs): Abnormal connections between arteries and veins
- Cerebral cavernous malformations (CCMs): Collections of abnormally dilated blood vessels in the brain
- Hereditary hemorrhagic telangiectasia (HHT): A condition characterized by abnormal blood vessel formation in the nose, lungs, and other organs
Did you Know ?
Research has shown that DLL4 plays a critical role in blood vessel formation before birth and throughout life. In fact, approximately 90% of blood vessels require DLL4 signaling for their development and maturation.
