NOTCH1 Gene
The NOTCH1 gene provides instructions for making a protein called Notch1, a member of the Notch family of receptors. Notch1 signaling helps determine the specialization of cells into certain cell types that perform particular functions in the body such as cell fate determination. It also plays a role in proliferation, differentiation, and apoptosis. Diseases associated with NOTCH1 include Aortic Valve Disease 1 and Adams-Oliver Syndrome 5. Pathogenic mutations in NOTCH1 were identified in 7% of familial LS-CHD and in 1% of sporadic LS-CHD. The penetrance is high; a cardiovascular malformation was found in 75% of NOTCH1 mutation carriers. Left- sided congenital heart disease (LS-CHD) represents a group of highly heritable congenital heart defects, including bicuspid aortic valve (BAV), aortic valve stenosis (AVS), coarctation of the aorta (COA), and hypoplastic left heart syndrome (HLHS).
