Gene Symbol | PTPN22 |
Entrez Gene ID | 26191 |
Full Name | protein tyrosine phosphatase, non-receptor type 22 |
Synonyms | LYP,LYP1,LYP2,PEP,PTPN22.5,PTPN22.6,PTPN8 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | {Diabetes, type 1, susceptibility to}, 222100 (3); {Rheumatoid arthritis, susceptibility to}, 180300 (3); {Systemic lupus erythematosus susceptibility to}, 152700 (3) |