mitogen-activated protein kinase kinase 2, MAP2K2
"CFC syndrome, ERK activator kinase 2, MAP kinase kinase 2, MAPK/ERK kinase 2, cardiofaciocutaneous syndrome, dual specificity mitogen-activated protein kinase kinase 2, mitogen-activated protein kinase kinase 2, p45"

  Background  
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, mental retardation, 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].

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  Gene/Protein Information