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]

基因名:PTPN22
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:  
PTPN22 基因突变与药物

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