mitogen-activated protein kinase kinase 1
Last updated 12 Apr 2023
Meets Patient’s editorial guidelines
- DownloadDownload
- Share
- Language
- Discussion
- Audio Version
- Add to preferred sources on Google
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. RAS/MAPK signaling helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (migration), and the self-destruction of cells (apoptosis). MEK1 protein kinase appears to be essential for normal development before birth and for survival after birth.
Normal function
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. RAS/MAPK signaling helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (migration), and the self-destruction of cells (apoptosis). MEK1 protein kinase appears to be essential for normal development before birth and for survival after birth.
Conditions referring to this gene or chromosome
Other names
Dual Specificity Mitogen-Activated Protein Kinase Kinase 1
ERK Activator Kinase 1
MAP Kinase Kinase 1
MAPK/ERK kinase 1
MAPKK1
MEK-1
MEK-1 Protein Kinase
MEK1
MKK-1 Protein Kinase
MKK1
MKK1 Protein Kinase
MP2K1_HUMAN
PRKMK1
protein kinase, mitogen-activated, kinase 1 (MAP kinase kinase 1)
Related patient information and medicines
Patient information leaflet
Muscular dystrophy
Muscular dystrophy is an inherited (genetic) disorder causing muscle weakness. There are different types of muscular dystrophy, which vary as to how severe they are, ranging from very mild to severe. Also, if a child has delayed motor milestones (as mention... MD may be diagnosed using one or more of the following tests: A blood test for creatine.
Patient information leaflet
Primary liver cancer
It is not likely to be curative for primary liver cancer but may shrink the tumour down to slow the progression of the disease. There are new medicines being developed for the treatment of liver cancer. For example, sorafenib is a type of medicine called a multi-targeted kinase inhibitor. It interferes with the growth of cancer cells. Research has.
Patient information leaflet
Juvenile idiopathic arthritis
Juvenile idiopathic arthritis is a condition in which persisting joint inflammation first occurs in. Affected joints become painful and swollen, and can become damaged. As they are relatively... Options include: Etanercept Tocilizumab Infliximab Abatacept Adalimumab Tofacitinib is another new drug. It belongs to a type of drug called JAK kinase.
Patient information leaflet
Glycogen storage disorders
Glycogen storage disorders are a group of inherited diseases. They result from a problem with one of the proteins (known as enzymes) involved in the conversion of glucose to glycogen, or the breakdown of glycogen back into glucose. They mostly tend to affect your liver and muscles. Most are diagnosed in childhood. Symptoms include weakness,.
Patient information leaflet
Pompholyx
Pompholyx is a type of eczema where there are itchy blisters on the hands and feet, followed by inflamed and dry skin. The condition is usually long-term, with symptoms that come and go at various times. The first step in mana... In some cases it has been shown to be helpful for the treatment of pompholyx. Janus Kinase (JAK) inhibitors : these.
Patient information leaflet
Can I take Royal sun and Turkey tail together?
Both Royal Sun (Agaricus blazei) and Turkey Tail (Trametes versicolor) are medicinal mushrooms that can stimulate the immune system. ...ether your prescriptions, over-the-counter medicines, and supplements are safe to take togetherDisclaimer This information is for general educational purposes only and should not be relied upon as a substitute.
Further reading and references
- mitogen-activated protein kinase kinase 1; MedlinePlus, National Library of Medicine.
- Brown NA, Furtado LV, Betz BL, Kiel MJ, Weigelin HC, Lim MS, Elenitoba-Johnson KS. High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis. Blood. 2014 Sep 4;124(10):1655-8. doi: 10.1182/blood-2014-05-577361. Epub 2014 Jun 30.
- Chakraborty R, Hampton OA, Shen X, Simko SJ, Shih A, Abhyankar H, Lim KP, Covington KR, Trevino L, Dewal N, Muzny DM, Doddapaneni H, Hu J, Wang L, Lupo PJ, Hicks MJ, Bonilla DL, Dwyer KC, Berres ML, Poulikakos PI, Merad M, McClain KL, Wheeler DA, Allen CE, Parsons DW. Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis. Blood. 2014 Nov 6;124(19):3007-15. doi: 10.1182/blood-2014-05-577825. Epub 2014 Sep 8.
- Kang H, Jha S, Deng Z, Fratzl-Zelman N, Cabral WA, Ivovic A, Meylan F, Hanson EP, Lange E, Katz J, Roschger P, Klaushofer K, Cowen EW, Siegel RM, Marini JC, Bhattacharyya T. Somatic activating mutations in MAP2K1 cause melorheostosis. Nat Commun. 2018 Apr 11;9(1):1390. doi: 10.1038/s41467-018-03720-z.
- Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Heron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cave H. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet. 2007 Dec;44(12):763-71. doi: 10.1136/jmg.2007.050450. Epub 2007 Aug 17.
- Nelson DS, van Halteren A, Quispel WT, van den Bos C, Bovee JV, Patel B, Badalian-Very G, van Hummelen P, Ducar M, Lin L, MacConaill LE, Egeler RM, Rollins BJ. MAP2K1 and MAP3K1 mutations in Langerhans cell histiocytosis. Genes Chromosomes Cancer. 2015 Jun;54(6):361-8. doi: 10.1002/gcc.22247. Epub 2015 Mar 31.
- Nishi E, Mizuno S, Nanjo Y, Niihori T, Fukushima Y, Matsubara Y, Aoki Y, Kosho T. A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines. Am J Med Genet A. 2015 Feb;167A(2):407-11. doi: 10.1002/ajmg.a.36842. Epub 2014 Nov 25.
- Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, Conger BA, Cruz MS, McCormick F, Rauen KA. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science. 2006 Mar 3;311(5765):1287-90. doi: 10.1126/science.1124642. Epub 2006 Jan 26.
Join the conversation
Share your thoughts or experiences with others in our patient communities.
Ask, share, connect.
Browse discussions, ask questions, and share experiences across hundreds of health topics.
Sign up to the Patient newsletter
Your weekly dose of clear, trustworthy health advice - written to help you feel informed, confident and in control.
By subscribing you accept our Privacy Policy. You can unsubscribe at any time. We never sell your data.