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CLICK IMAGE FOR MORE INFORMATIONThe MAP2K1 gene encodes for a protein known as MEK1 protein kinase. This protein is part of a signaling pathway known as the MAP kinase cascade that relays chemical signals from outside the cell to the cell's nucleus and helps control various cellular processes, including cell proliferation, cell differentiation and cell death. MAP2K1 is very similar to the gene MAP2K2 (endoding the protein MEK2 protein kinase), which is also part of the same pathway. Both the MEK1 and the MEK2 protein kinases seem to be essential for normal development and survival before and after birth.
Mutations in MAP2K1 have been identified in lung cancer, colon cancer and melanoma of the skin. Since MEK1 is a link in the middle of the MAP kinase cascade, drugs that block its action may be effective in treating cancers caused by defective genes that affect links in the first part of this pathway, such as activating mutations in BRAF, KRAS and NRAS.
Source: Genetics Home Reference
The MAP2K1 (MEK1) gene encodes for a serine/threonine kinase component of the MAP kinase cascade, which regulates multiple cellular processes including proliferation, survival and differentiation. Mutations in MEK1 have been described at low prevalence in lung cancer, colon cancer, melanoma and ovarian cancer cell lines.
Source: Genetics Home Reference
PubMed ID's
18632602,
19411838,
18060073The MEK1 K57N mutation arises from the nucleotide change c.171G>T in exon 2, resulting in an amino acid substitution of the lysine (K) at position 57 by an asparagine (N).
The MEK1 K57N mutation arises from the nucleotide change c.171G>T in exon 2, resulting in an amino acid substitution of the lysine (K) at position 57 by an asparagine (N).