FGFR3

Acidic and basic fibroblast growth factors (FGFs) are members of a family of multifunctional polypeptide growth factors that stimulate proliferation of cells of mesenchymal, epithelial and neuroectodermal origin. Like other growth factors, FGFs act by binding and activating specific cell surface receptors. These include the Flg receptor or FGFR-1, the Bek receptor or FGFR-2, FGFR-3, FGFR-4, FGFR-5 and FGFR-6. These receptors usually contain an extracellular ligand-binding region containing three immunoglobulin-like domains, a transmembrane domain and a cytoplasmic tyrosine kinase domain. The gene encoding human FGFR-3 maps to chromosome 4p16 and is alternatively spliced to produce three isoforms that are expressed in brain, kidney and testis. Defects in FGFR-3 are associated with several diseases, including Crouzon syndrome, achondroplasia, thanatophoric dysplasia, craniosynostosis adelaide type and hypochondroplasia. Mutations in FGFR-3 are also a cause of some bladder and cervical cancers.