Abl gene

The ABL1 gene, also known as Abelson murine leukemia viral oncogene homolog 1, is a gene that encodes a protein tyrosine kinase involved in various cellular processes, including cell division, adhesion, and stress response. The ABL1 gene is located on chromosome 9 at the q34 band.

Function

The ABL1 protein is a non-receptor tyrosine kinase that plays a crucial role in the regulation of cell growth and survival. It is involved in the signaling pathways that control the cell cycle, DNA repair, and apoptosis. The ABL1 protein can shuttle between the nucleus and the cytoplasm, allowing it to participate in various cellular functions.

Clinical significance

Mutations or translocations involving the ABL1 gene can lead to the development of certain types of cancer. The most well-known translocation involving ABL1 is the Philadelphia chromosome, which results from a reciprocal translocation between chromosomes 9 and 22. This translocation creates the BCR-ABL fusion protein, which is constitutively active and leads to uncontrolled cell proliferation. The BCR-ABL fusion protein is a hallmark of chronic myeloid leukemia (CML) and is a target for specific cancer therapies, such as imatinib.

Research and therapeutic implications

The discovery of the BCR-ABL fusion protein and its role in CML has led to the development of targeted therapies that specifically inhibit the activity of the ABL1 kinase. These therapies have significantly improved the prognosis for patients with CML. Research continues to explore the role of ABL1 in other cancers and diseases, as well as the development of resistance to ABL1 inhibitors.

Also see

• Philadelphia chromosome
• Chronic myeloid leukemia
• Tyrosine kinase
• Imatinib