Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Binding of extracellular ligands such as growth factors, cytokines and hormones to th...[+]

Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Binding of extracellular ligands such as growth factors, cytokines and hormones to their cell-surface receptors activates the MAPK/ERK cascade, ultimately leading to phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in MAP kinases. Depending on the cellular context, this pathway mediates diverse biological functions such as cell growth, adhesion, survival and differentiation predominantly through the regulation of transcription, metabolism and cytoskeletal rearrangements (By similarity).; Dual specificity mitogen-activated protein kinase kinase 1 [-]

             Noonan syndrome 1
             cardiofaciocutaneous syndrome 3

          CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD