MAP2K1 Gene

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Liu, D. MAP2K1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4463 (accessed on 28 September 2026).

Liu D. MAP2K1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4463. Accessed September 28, 2026.

Liu, Dean. "MAP2K1 Gene" Encyclopedia, https://encyclopedia.pub/entry/4463 (accessed September 28, 2026).

Liu, D. (2020, December 23). MAP2K1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4463

Liu, Dean. "MAP2K1 Gene." Encyclopedia. Web. 23 December, 2020.

MAP2K1 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/map2k1

Mitogen-activated protein kinase kinase 1

genes

References

Brown NA, Furtado LV, Betz BL, Kiel MJ, Weigelin HC, Lim MS, Elenitoba-JohnsonKS. High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhanscell histiocytosis. Blood. 2014 Sep 4;124(10):1655-8. doi:10.1182/blood-2014-05-577361.
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.
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. NatCommun. 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, MatsubaraY, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Héron D, Sigaudy S,Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cavé H.Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPKsignalling pathway: genotype-phenotype relationships and overlap with Costellosyndrome. J Med Genet. 2007 Dec;44(12):763-71.
Nelson DS, van Halteren A, Quispel WT, van den Bos C, Bovée 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. GenesChromosomes Cancer. 2015 Jun;54(6):361-8. doi: 10.1002/gcc.22247.
Nishi E, Mizuno S, Nanjo Y, Niihori T, Fukushima Y, Matsubara Y, Aoki Y, KoshoT. A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome withmultiple lentigines. Am J Med Genet A. 2015 Feb;167A(2):407-11. doi:10.1002/ajmg.a.36842.
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.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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