ABL1
小结
ABL1是致癌基因，编码一种非受体酪氨酸激酶，位于细胞质和细胞核中，可被生长因子受体，细胞激酶或DNA损伤激活。ABL信号传导调节细胞增殖，分化，凋亡和迁移。在慢性髓性白血病（CML）和费城染色体阳性急性淋巴细胞白血病（Ph + ALL）中，ABL和BCR基因之间的易位形成驱动融合蛋白BCR-ABL，BCR-ABL融合蛋白是组成型活化的致癌酪氨酸激酶，其引起造血细胞中信号传导途径的配体非依赖性激活。在骨髓疾病中容易发生ABL1易位。
ABL1 (also ABL) is a non-receptor tyrosine kinase with ubiquitous cellular expression. ABL is located both in the cytoplasm and nucleus and can be activated by growth factor receptors, cellular kinases or DNA damage. In response to extrinsic ligand stimulation, ABL signaling regulates cellular proliferation, differentiation, apoptosis, and migration. ABL has additional cellular roles including regulation of actin polymerization, vascular development, transcription, and T cell maturation. In chronic myelogenous leukemia (CML) and Philadelphia chromosome-positive acute lymphocytic leukemia (Ph+ ALL), translocations between the ABL and BCR genes result in the driver fusion protein BCR-ABL. The BCR-ABL fusion protein is a constitutively activated oncogenic tyrosine kinase that causes ligand-independent activation of signaling pathways in hematopoietic cells. The BCR-ABL fusion protein results in loss of auto-inhibition of ABL leading to activation of the kinase. Alternative ABL1 translocations are also observed in myeloid disease.