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.


Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.