ABL1 : ABL proto-oncogene 1, non-receptor tyrosine kinase
The ABL1 Gene: A Central Player in Cellular Processes
Description
The ABL1 gene is responsible for producing the ABL1 protein, a vital enzyme that plays a crucial role in numerous cellular processes. As a kinase, ABL1 modifies proteins by attaching phosphate groups, regulating their activity and influencing various aspects of cell behavior.
Functioning as a molecular switch, ABL1 is normally inactive but can be activated by various triggers. Once activated, it interacts with a diverse array of proteins, enabling its involvement in a wide range of cellular processes, including cell growth, division, differentiation, and migration.
Associated Diseases
Mutations in the ABL1 gene can disrupt the normal activities of the ABL1 protein, leading to several diseases, notably:
- Chronic Myelogenous Leukemia (CML): A type of blood cancer characterized by an abnormal proliferation of white blood cells due to a specific ABL1 mutation known as the Philadelphia chromosome.
- Acute Lymphoblastic Leukemia (ALL): A type of blood cancer affecting children, where ABL1 mutations can contribute to disease development in a subset of cases.
- Gastrointestinal Stromal Tumors (GISTs): Tumors that originate in the digestive tract, often caused by ABL1 mutations.
Did you Know ?
ABL1 mutations are estimated to occur in approximately 20% of chronic myeloid leukemia cases, making it the most common genetic abnormality associated with the disease.
