Description
Product Characteristics: FGFR3 Antibody: FGFR3 is a tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis (1). It is required for normal skeleton development and promotes apoptosis in chondrocytes and cancer cell proliferation. FGFR3 protein contains three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain (1,2). It is alternatively spliced to produce three isoforms that are expressed in brain, kidney and testis. Defects in FGFR3 are associated with several diseases, including achondroplasia and hypochondroplasia (3,4). Mutations in FGFR3 are also a cause of some bladder and cervical cancers (5).
Target Information: This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Three alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Jul 2009]