MAP2K1

The MAP2K1 gene provides instructions for making a protein known as MEK1 protein kinase. This protein is 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 growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement, and the self-destruction of cells (apoptosis).

The MAP2K1 gene is very similar to a gene called MAP2K2, which provides instructions for making a protein known as MEK2 protein kinase. Like MEK1 protein kinase, this protein functions as part of the RAS/MAPK signaling pathway. Together, the MEK1 and MEK2 protein kinases appear to be essential for normal development before birth and for survival after birth.

cardiofaciocutaneous syndrome - caused by mutations in the MAP2K1 gene

At least six mutations in the MAP2K1 gene have been identified in people with cardiofaciocutaneous syndrome. Each of these mutations changes a single protein building block (amino acid) in MEK1 protein kinase. These genetic changes abnormally activate the protein, which disrupts the tightly regulated RAS/MAPK signaling pathway in cells throughout the body. The altered signaling interferes with the normal development of many organs and tissues, resulting in the characteristic features of cardiofaciocutaneous syndrome.