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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant.

A SNP in the gene PTPN22 is associated with type 1 diabetes, rheumatoid arthritis, lupus, Graves thyroiditis, Addison disease and other autoimmune disorders. T cells from carriers of the predisposing allele produce less interleukin-2 upon TCR stimulation, and the encoded phosphatase has higher catalytic activity and is a more potent negative regulator of T lymphocyte activation. We conclude that the autoimmune-predisposing allele is a gain-of-function mutant.[1]

References

  1. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Vang, T., Congia, M., Macis, M.D., Musumeci, L., Orrú, V., Zavattari, P., Nika, K., Tautz, L., Taskén, K., Cucca, F., Mustelin, T., Bottini, N. Nat. Genet. (2005) [Pubmed]
 
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