NOTCH3

NOTCH3 encodes the Notch homolog 3 protein, also known as TAN2. This transmembrane receptor is crucial for cell - fate determination during development. It functions through a proteolytic cleavage mechanism, releasing an intracellular domain that translocates to the nucleus to regulate gene expression. The NOTCH3 protein is involved in the Notch signaling pathway.
Mutations in NOTCH3 are linked to Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). In the realm of drug development, efforts are underway to target the Notch pathway, aiming to modulate NOTCH3 activity for treating CADASIL and other related disorders. However, challenges remain due to the pathway's complexity.