protein tyrosine phosphatase non-receptor type 11
Última actualización 24 Abr 2023
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El PTPN11 gene provides instructions for making a protein called SHP-2. This protein helps regulate the RAS/MAPK signaling pathway. This pathway is involved in several important cell functions, including the growth and division of cells (proliferation), the process by which cells mature to carry out specific functions (differentiation), cell movement (migration), and the self-destruction of cells (apoptosis). During embryonic development, the SHP-2 protein is critical in the development of the heart, blood cells, bones, and several other tissues.
Normal function
El PTPN11 gene provides instructions for making a protein called SHP-2. This protein helps regulate the RAS/MAPK signaling pathway. This pathway is involved in several important cell functions, including the growth and division of cells (proliferation), the process by which cells mature to carry out specific functions (differentiation), cell movement (migration), and the self-destruction of cells (apoptosis). During embryonic development, the SHP-2 protein is critical in the development of the heart, blood cells, bones, and several other tissues.
El PTPN11 gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous.
Conditions referring to this gene or chromosome
Otros nombres
BPTP3
protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)
protein-tyrosine phosphatase 2C
PTN11_HUMAN
PTP-1D
PTP2C
SH protein-tyrosine phosphatase
SH-PTP2
SH-PTP3
SHP2
SHP2 phosphatase
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Lecturas adicionales y referencias
- protein tyrosine phosphatase non-receptor type 11; MedlinePlus, National Library of Medicine.
- Bentires-Alj M, Paez JG, David FS, Keilhack H, Halmos B, Naoki K, Maris JM, Richardson A, Bardelli A, Sugarbaker DJ, Richards WG, Du J, Girard L, Minna JD, Loh ML, Fisher DE, Velculescu VE, Vogelstein B, Meyerson M, Sellers WR, Neel BG. Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia. Cancer Res. 2004 Dec 15;64(24):8816-20. doi: 10.1158/0008-5472.CAN-04-1923.
- Chan G, Kalaitzidis D, Neel BG. The tyrosine phosphatase Shp2 (PTPN11) in cancer. Cancer Metastasis Rev. 2008 Jun;27(2):179-92. doi: 10.1007/s10555-008-9126-y.
- Gulec EY, Ocak Z, Candan S, Ataman E, Yarar C. Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype. Int J Cardiol. 2015;186:13-5. doi: 10.1016/j.ijcard.2015.03.260. Epub 2015 Mar 19. No abstract available.
- Keren B, Hadchouel A, Saba S, Sznajer Y, Bonneau D, Leheup B, Boute O, Gaillard D, Lacombe D, Layet V, Marlin S, Mortier G, Toutain A, Beylot C, Baumann C, Verloes A, Cave H; French Collaborative Noonan Study Group. PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. J Med Genet. 2004 Nov;41(11):e117. doi: 10.1136/jmg.2004.021451. No abstract available.
- Mohi MG, Neel BG. The role of Shp2 (PTPN11) in cancer. Curr Opin Genet Dev. 2007 Feb;17(1):23-30. doi: 10.1016/j.gde.2006.12.011. Epub 2007 Jan 16.
- Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct;126(4):746-59. doi: 10.1542/peds.2009-3207. Epub 2010 Sep 27.
- Tartaglia M, Gelb BD. Germ-line and somatic PTPN11 mutations in human disease. Eur J Med Genet. 2005 Apr-Jun;48(2):81-96. doi: 10.1016/j.ejmg.2005.03.001. Epub 2005 Apr 2.
- Tartaglia M, Gelb BD. Noonan syndrome and related disorders: genetics and pathogenesis. Annu Rev Genomics Hum Genet. 2005;6:45-68. doi: 10.1146/annurev.genom.6.080604.162305.
- Zhang J, Zhang F, Niu R. Functions of Shp2 in cancer. J Cell Mol Med. 2015 Sep;19(9):2075-83. doi: 10.1111/jcmm.12618. Epub 2015 Jun 19.
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