NOTCH2 : notch receptor 2
The NOTCH2 Gene: A Versatile Regulator of Development and Function
Description:
The NOTCH2 gene encodes a protein called Notch2, a vital member of the Notch family of receptors. These receptors are gatekeepers on the cell surface, binding to specific ligands like keys into locks. This interaction initiates signaling cascades essential for the development and function of various tissues throughout the body.
Associated Diseases:
Mutations in the NOTCH2 gene have been linked to several developmental disorders, including:
- Alagille syndrome: A rare genetic condition characterized by liver, heart, and kidney abnormalities
- Hajdu-Cheney syndrome: A skeletal dysplasia causing shortened limbs, cleft palate, and other bone malformations
- Cerebellar ataxia: A neurological disorder affecting coordination and movement
Did you Know ?
Notch signaling, in which NOTCH2 plays a crucial role, has been shown to be active in over 50% of human cancers. This highlights its potential involvement in tumor development.
