基因名称：PTPN22 （protein tyrosine phosphatase non-receptor type 22）
别名： LYP,PEP,LYP1,LYP2,PTPN8,PTPN22.5,PTPN22.6
基因ID：26191
Chromosome(GRCh37) ：1 Start: 114356433 End: 114414375 Strand:
信号通路：
靶向药：
化疗药：
简介：该基因编码蛋白酪氨酸磷酸酶家族非受体4亚家族成员编码蛋白是一种淋巴特异性细胞内磷酸酶，与分子适配器蛋白CBL相关，可能参与调节T细胞受体信号途径中的CBL功能该基因突变可能与一系列自身免疫性疾病有关，包括1型糖尿病、类风湿关节炎、系统性红斑狼疮和Graves病另外，还描述了编码不同亚型的剪接转录变体。〔RefSeq，2009〕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]
PTPN22突变与药物：
