protein tyrosine phosphatase non-receptor type 22
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A PTPN22 gene provides instructions for making a protein that belongs to the PTP (protein tyrosine phosphatases) family. PTP proteins play a role in regulating a process called signal transduction. In signal transduction, the protein relays signals from outside the cell to the cell nucleus. These signals instruct the cell to grow and divide or to mature and take on specialized functions.
Normal function
A PTPN22 gene provides instructions for making a protein that belongs to the PTP (protein tyrosine phosphatases) family. PTP proteins play a role in regulating a process called signal transduction. In signal transduction, the protein relays signals from outside the cell to the cell nucleus. These signals instruct the cell to grow and divide or to mature and take on specialized functions.
The PTPN22 protein is involved in signaling that helps control the activity of immune system cells called T cells. T cells identify foreign substances and defend the body against infection.
Conditions referring to this gene or chromosome
Other names
lymphoid phosphatase
lymphoid-specific protein tyrosine phosphatase
LYP
LYP1
LYP2
PEP
PEST-domain phosphatase
protein tyrosine phosphatase, non-receptor type 8
PTN22_HUMAN
PTPN8
tyrosine-protein phosphatase non-receptor type 22
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Leitura adicional e referências
- protein tyrosine phosphatase non-receptor type 22; MedlinePlus, National Library of Medicine.
- Arechiga AF, Habib T, He Y, Zhang X, Zhang ZY, Funk A, Buckner JH. Cutting edge: the PTPN22 allelic variant associated with autoimmunity impairs B cell signaling. J Immunol. 2009 Mar 15;182(6):3343-7. doi: 10.4049/jimmunol.0713370.
- LaBerge GS, Bennett DC, Fain PR, Spritz RA. PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not. J Invest Dermatol. 2008 Jul;128(7):1757-62. doi: 10.1038/sj.jid.5701233. Epub 2008 Jan 17.
- Laberge GS, Birlea SA, Fain PR, Spritz RA. The PTPN22-1858C>T (R620W) functional polymorphism is associated with generalized vitiligo in the Romanian population. Pigment Cell Melanoma Res. 2008 Apr;21(2):206-8. doi: 10.1111/j.1755-148X.2008.00443.x.
- Lee YH, Rho YH, Choi SJ, Ji JD, Song GG, Nath SK, Harley JB. The PTPN22 C1858T functional polymorphism and autoimmune diseases--a meta-analysis. Rheumatology (Oxford). 2007 Jan;46(1):49-56. doi: 10.1093/rheumatology/kel170. Epub 2006 Jun 7.
- Pradhan V, Borse V, Ghosh K. PTPN22 gene polymorphisms in autoimmune diseases with special reference to systemic lupus erythematosus disease susceptibility. J Postgrad Med. 2010 Jul-Sep;56(3):239-42. doi: 10.4103/0022-3859.68651.
- Spritz RA. The genetics of generalized vitiligo and associated autoimmune diseases. Pigment Cell Res. 2007 Aug;20(4):271-8. doi: 10.1111/j.1600-0749.2007.00384.x.
- Vang T, Miletic AV, Bottini N, Mustelin T. Protein tyrosine phosphatase PTPN22 in human autoimmunity. Autoimmunity. 2007 Sep;40(6):453-61. doi: 10.1080/08916930701464897.
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