JAK3编码蛋白是一种非受体酪氨酸激酶。JAK3的激活导致STAT家族蛋白的激活,并且可以通过MAPK和Akt通路传递信号。JAK3调节细胞因子、趋化因子和新陈代谢的反应,参与细胞生长,发育和分化。JAK3信号转导在T细胞发育中起重要作用,包括调节T细胞凋亡。临床上JAK3信号转导可介导自身免疫性疾病和移植物排斥反应。JAK3突变见于急性白血病、骨髓性和淋巴性白血病亚型和淋巴瘤。JAK3突变也在实体瘤中发现,但发生率较低。JAK3的功能丧失突变可导致严重的联合免疫缺陷(SCID)。
JAK3 encodes for Janus Kinase 3, a non-receptor tyrosine kinase. JAK3 activation results in activation of the STAT family of proteins and can also signal through the MAPK and AKT pathways. JAK3 regulates response to cytokines, chemokines, and metabolism. JAK3 signaling plays a crucial role in T-cell development, including regulation of T-cell apoptosis. Clinically JAK3 signaling can mediate autoimmune disease and graft rejection. JAK3 mutations are seen in acute leukemias, myeloid and lymphoid leukemia subtypes, and lymphomas. JAK3 mutations are also found in solid tumors but at lower incidence. Loss of function mutations in JAK3 can lead to severe combined immunodeficiency (SCID).
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