A new study shows that the PTPN22 coding variant associated with autoimmunity is a loss-of-function allele that causes the protein tyrosine phosphatase encoded by PTPN22 to undergo accelerated degradation, resulting in enhanced signaling in several immune cell types.
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Behrens, T. Lyp breakdown and autoimmunity. Nat Genet 43, 821–822 (2011). https://doi.org/10.1038/ng.914
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DOI: https://doi.org/10.1038/ng.914
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