Humpath.com - Human pathology

Home > A. Molecular pathology > PTPN22

PTPN22

Wednesday 7 July 2004

Hematopoietic-specific protein tyrosine phosphatase gene.

Pathology

- polymorphisms of PTPN22 in susceptibility for four autoimmune diseases (15719322). The autoimmune-predisposing allele is a gain-of-function mutant (16273109).

  • rheumatoid arthritis (16096982)
  • systemic lupus erythematosus
  • type 1 diabetes
  • Hashimoto thyroiditis
  • Graves thyroiditis
  • Addison disease
  • other autoimmune disorders

See also

- PTPNs

References

- Vang T, Congia M, Macis MD, Musumeci L, Orru V, Zavattari P, Nika K, Tautz L, Tasken K, Cucca F, Mustelin T, Bottini N. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet. 2005 Dec;37(12):1317-9. PMID: 16273109