Dual specificity mitogen-activated protein kinase kinase 1 is an enzyme that in humans is encoded by the MAP2K1 gene. [5][6] The protein encoded by this gene is a member of the dual-specificity protein kinase family that acts as a mitogen-activated protein (MAP) kinase kinase.

2024年12月25日 · MAP2K1 (Mitogen-Activated Protein Kinase Kinase 1) is a Protein Coding gene. Diseases associated with MAP2K1 include Cardiofaciocutaneous Syndrome 3 and Melorheostosis, Isolated. Among its related pathways are Prolactin Signaling and Toll Like Receptor 7/8 (TLR7/8) Cascade.

The MAP2K1 gene provides instructions for making a protein known as MEK1 protein kinase. This protein is part of a signaling pathway called the RAS/MAPK pathway, which transmits chemical signals from outside the cell to the cell's nucleus.

At least three mutations in the MAP2K1 gene have been identified in people with melorheostosis. This rare disease causes the abnormal growth of new bone tissue on the surface of existing …

This is the first report of MAP2K1 mutations in Langerhans cell histiocytosis(LCH) that occur in 50% of BRAF wild-type cases. The mutually exclusive nature of MAP2K1 and BRAF mutations implicates a critical role of oncogenic MAPK signaling in LCH.

Mitogen-activated protein (MAP) kinases, also known as extracellular signal-regulated kinases (ERKs) (see ERK2, or MAPK1; 176948), are thought to act as an integration point for multiple biochemical signals because they are activated by a wide variety of extracellular signals, are rapidly phosphorylated on threonine and tyrosine residues, and ar...

In this study, we report the clinical, histologic and molecular findings in 6 MAP2K1 deletion melanocytic neoplasms which did not harbor detectable activating mutations in beta-catenin and despite that displayed a distinct Spitz or DPN-like morphology.

MAP2K1 (MEK1), mitogen-activated protein kinase kinase 1, is a serine-threonine kinase, which activates the RAS-RAF-MEK-ERK pathway in cell proliferation and differentiation (PMID: 22753777).

2024年6月17日 · Title: MAP2K1-mutated melanocytic tumors have reproducible histopathologic features and share similarities with melanocytic tumors with BRAF V600E mutations. Activating mutations drive human MEK1 kinase using a gear-shifting mechanism.

2015年10月13日 · Clinical resource with information about MAP2K1, Cardiofaciocutaneous syndrome 3, Melorheostosis, Noonan syndrome, Noonan syndrome 1, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.