MAP2K2 : mitogen-activated protein kinase kinase 2
MAP2K2: A Key Player in Cellular Communication and Beyond
Description
The MAP2K2 gene, located on chromosome 19, holds the blueprint for producing the MEK2 protein kinase. This protein plays a crucial role in the RAS/MAPK signaling pathway, a cascade of events that relays information from the outside of the cell to its nucleus.
This pathway is essential for regulating cell growth, differentiation, movement, and apoptosis (programmed cell death). MEK2 protein kinase, along with its close relative MEK1, are indispensable for proper fetal development and postnatal survival.
Associated Diseases
Mutations in the MAP2K2 gene have been linked to:
- Cardiovascular malformations: Such as congenital heart defects and aortic aneurysms
- Developmental disorders: Including Noonan syndrome and Costello syndrome
- Cancer: Certain types of leukemia and neuroblastoma
Did you Know ?
About 1 in 20,000 individuals worldwide are affected by MAP2K2-related disorders, showcasing the gene‘s significant impact on human health.
