Article
Evolutionary history of MEK1 illuminates the nature of deleterious mutations.
Proceedings of the National Academy of Sciences of the United States of America - 22 Aug 2023
Andrianova Ekaterina P, Marmion Robert A, Shvartsman Stanislav Y, Zhulin Igor B
Abstract excerpt
Mutations in signal transduction pathways lead to various diseases including cancers. MEK1 kinase, encoded by the human MAP2K1 gene, is one of the central components of the MAPK pathway and more than a hundred somatic mutations in the MAP2K1 gene were identified in various tumors. Germline mutations deregulating MEK1 also lead to congenital abnormalities, such as the cardiofaciocutaneous syndrome and...
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