MAP2K2
mitogen-activated protein kinase kinase 2
Normal Function
Health Conditions Related to Genetic Changes
Cardiofaciocutaneous syndrome
At least 13 mutations in the MAP2K2 gene have been identified in people with cardiofaciocutaneous syndrome. Most of these mutations change single protein building blocks (amino acids) in MEK2 protein kinase, although one mutation deletes several amino acids from the protein. These genetic changes abnormally activate MEK2 kinase, 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.
More About This Health ConditionRelated Conditions
Cardiofaciocutaneous syndrome
Health Conditions Related to Genetic Changes
At least 13 mutations in the MAP2K2 gene have been identified in people with cardiofaciocutaneous syndrome. Most of these mutations change single protein building blocks (amino acids) in MEK2 protein kinase, although one mutation deletes several amino acids from the protein. These genetic changes abnormally activate MEK2 kinase, 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.