The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, cognitive disability, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008]
- MAPK cascade
- Activation of MAPK activity
- Protein phosphorylation
- Regulation of mitotic cell cycle
- Negative regulation of gene expression
- Cardiofaciocutaneous syndrome 4
- Cardiofaciocutaneous syndrome 1
- Tafro syndrome
- Neurofibromatosis-noonan syndrome
- Rasopathy
Gene Location
