RAF1 Gene
The RAF1 gene provides instructions for making a protein part of a signaling pathway called the RAS/MAPK pathway, which transmits chemical signals from outside the cell to the cell’s nucleus. RAS/MAPK signaling helps control the proliferation, differentiation, migration, and apoptosis. People with Noonan syndrome caused by a RAF1 mutation have a greater incidence of heart defects than other people with Noonan syndrome, specifically a condition called hypertrophic cardiomyopathy, which is a thickening of the heart muscle that forces the heart to work harder to pump blood.
