FGFR3, or Fibroblast Growth Factor Receptor 3, is a protein that plays a crucial role in cell growth, development, and tissue repair. It is part of a family of receptors that bind to fibroblast growth factors, which are important for various biological processes, including bone development and maintenance.
Mutations in the FGFR3 gene can lead to several skeletal disorders, such as achondroplasia, a common form of dwarfism. These mutations can disrupt normal signaling pathways, affecting bone growth and leading to characteristic physical features associated with these conditions.