mitogen-activated protein kinase kinase 1
עודכן לאחרונה 12 אפריל 2023
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ה 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
ה 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
ניוון שרירים
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סרטן כבד ראשוני
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דלקת מפרקים אידיופתית של גיל הילדות
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Patient information leaflet
הפרעות אגירת גליקוגן
הפרעות אגירת גליקוגן 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
פומפוליקס
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Patient information leaflet
האם אני יכול לקחת רויאל סאן וזנב הודו יחד?
שניהם 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.
קריאה נוספת והפניות
- 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.
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