The ABL1 proto-oncogene encodes a cytoplasmic and nuclear protein tyrosine kinase that has been implicated in processes of cell differentiation, cell division, cell adhesion, and stress response such as DNA repair.

2024年12月24日 · ABL1 (ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase) is a Protein Coding gene. Diseases associated with ABL1 include Congenital Heart Defects And Skeletal Malformations Syndrome and Leukemia, Chronic Myeloid.

二、 abl1基因. 原癌基因，abl1蛋白的sh3结构域缺失会使abl1成为原癌基因，这种基因会常常和其他多种基因发生“不正当关系”，常见的就是与bcr基因融合成bcr-abl1，变异后的。 三、 bcr-abl1基因

Gene ID: 25, updated on 20-Feb-2025. This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress.

The ABL1 gene provides instructions for making a protein involved in many processes in cells throughout the body. The ABL1 protein functions as a kinase, which is an enzyme that changes the activity of other proteins by adding a cluster of oxygen and phosphorus atoms (a phosphate group) at specific positions.

The Abl family of cytoplasmic tyrosine kinases consists of 2 members, Abl and Arg (Abl-related gene), encoded by the ABL1 and ABL2 genes in humans, and has important roles in various biological processes. 1,2 Abl kinases share a central SH2-kinase domain unit with the majority of other cytoplasmic kinases 3 and have a long C-terminal tail ...

2024年6月4日 · Imatinib是一种TKI（酪氨酸激酶抑制剂），专门针对BCR-ABL1融合蛋白活性，显著改善了大多数CML患者的生存期和预后，目前这种药物被认为是标准疗法。 Imatinib 与ATP竞争 BCR-ABL1 激酶的ATP 结合口袋，从而抑制其进一步磷酸化。 在 Imatinib 之前，新确诊的CML 患者的中位存活率为 3-5 年，而在2015年，CML患者的10年生存率大于80% [2,4]。 虽然Imatinib非常成功，但患有BCR-ABL1白血病的CML病例中，有一部分要么在规定时间内对Imatinib不敏 …

2025年2月9日 · Title: Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome. Characteristics and literature review of ETV6::ABL1 fusion gene-positive acute myeloid leukemia.

该基因是一种原癌基因，编码参与多种细胞过程的蛋白酪氨酸激酶，包括细胞分裂、粘附、分化和应激反应。 该蛋白的活性受其 SH3 结构域的负调控，因此删除编码该结构域的区域会导致致癌基因。 普遍表达的蛋白质具有受 CDC2 介导的磷酸化调节的 DNA 结合活性，表明细胞周期功能。 已发现该基因与各种白血病中的多种易位伙伴基因融合，最显着的是导致与断点簇区域基因 5' 端融合的 t (9;22) 易位 (BCR; MIM:151410) .该基因的可变剪接导致两个转录本变体，其中包含可 …

2020年11月22日 · ABL1 is a proto-oncogene encoding a nonreceptor tyrosine kinase, best known in the somatic BCR-ABL fusion gene associated with chronic myeloid leukaemia. Recently, germline missense variants in...