FLT3 gene
The FLT3 gene provides instructions for making a protein that regulates the growth, survival, and proliferation of early blood cells.
Normal Function
The FLT3 gene provides instructions for making a protein called fms-like tyrosine kinase 3 (FLT3), which is a type of receptor tyrosine kinase (RTK). These proteins transmit signals from the cell surface into the cell through signal transduction. When a specific protein called FLT3 ligand attaches to the FLT3 receptor, it activates signaling pathways that control cellular processes, particularly the growth and division of hematopoietic progenitor cells (early blood cells).
Health Conditions Related to Genetic Changes
Cytogenetically normal acute myeloid leukemia (CN-AML)
Somatic mutations in the FLT3 gene are involved in CN-AML. These mutations are not inherited and are found only in cancerous cells. Two primary types of mutations occur:
- FLT3-ITD (Internal Tandem Duplication): A short DNA sequence is copied and inserted, altering the juxtamembrane domain. This causes the receptor to be "constitutively activated," meaning it is always turned on, leading to uncontrolled proliferation of immature white blood cells.
- FLT3-TKD (Tyrosine Kinase Domain) mutations: These change single amino acids in the tyrosine kinase domain (most commonly at position 835). Like ITD mutations, these result in a constitutively activated receptor and constant signaling.
Genomic Location
The FLT3 gene is found on chromosome 13.
