Description

Other Name: PTPN22; PTPN8; Tyrosine-protein phosphatase non-receptor type 22; Hematopoietic cell protein-tyrosine phosphatase 70Z-PEP; Lymphoid phosphatase; LyP; PEST-domain phosphatase; PEP

Background: This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves’ disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Mar 2009],