CSF1R : colony stimulating factor 1 receptor
Description:
The CSF1R gene, located on chromosome 5, encodes the colony stimulating factor 1 receptor (CSF-1R), a protein that plays a crucial role in various cellular processes. CSF-1R resides on the cell surface and binds to colony stimulating factor 1 (CSF-1), a signaling molecule. Upon binding, CSF-1R initiates a cascade of intracellular signaling pathways that regulate cell growth, division, and differentiation.
Associated Diseases:
Mutations in the CSF1R gene have been linked to several diseases, including:
- Juvenile Myelomonocytic Leukemia (JMML): A rare childhood cancer characterized by an overproduction of immature blood cells.
- Chronic Neutrophilic Leukemia (CNL): A rare myeloproliferative disorder characterized by an overabundance of neutrophils in the blood.
- Mast Cell Activation Syndrome (MCAS): A condition involving excessive activation of mast cells, leading to various symptoms such as flushing, itching, and abdominal pain.
- Osteoporosis: Mutations in CSF1R have been associated with increased risk of osteoporosis, particularly in postmenopausal women.
Did you Know ?
According to the National Cancer Institute, JMML, the rare childhood leukemia caused by CSF1R mutations, affects approximately 1 in 135,000 children in the United States.
