ABL2
Abl2: The Essential Protein with Multifaceted Roles
Description
Abl2, also known as Arg/Abl2, is a non-receptor tyrosine kinase protein that plays a crucial role in various cellular processes, including cell division, migration, and adhesion. It is encoded by the ABL2 gene, and its expression is primarily found in hematopoietic cells, such as lymphocytes and macrophages.
Abl2 exhibits structural similarity to the Abl1 tyrosine kinase, which is known for its involvement in chronic myeloid leukemia. However, Abl2 differs from Abl1 in its expression pattern and lack of transforming potential.
Associated Diseases
Aberrant expression or dysregulation of Abl2 has been linked to several diseases, including:
- Polycythemia vera: A blood disorder characterized by an elevated red blood cell count, often caused by mutations in the JAK2 gene. Abl2 is involved in JAK2 signaling and can contribute to the development of polycythemia vera.
- Chronic neutrophilic leukemia: A rare type of leukemia characterized by an increase in neutrophils. Mutations in the CEBPA gene, which encodes a regulator of Abl2, are frequently observed in this disease.
- Myelodysplastic syndromes: A group of disorders that affect the production of blood cells. Alterations in Abl2 expression or activity have been implicated in some cases of myelodysplastic syndromes.
Did you Know ?
Approximately 5% of patients with polycythemia vera have mutations in the ABL2 gene, highlighting its significance in the pathogenesis of this disease.
