FGFR1 [SD08-25] Antibody

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 (FGFR-1), the Bek receptor (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 Flg maps to chromosome 8p12 and is alternatively spliced to produce several isoforms. Mutations in Flg are associated with Pfeiffer syndrome (a skeletal disorder characterized by craniosynostosis with deviation and enlargement of the thumbs and great toes), brachymesophalangy with phalangeal ankylosis and a varying degree of soft tissue syndactyly. The Flg gene is also involved in chromosomal translocations with ZNF198, CEP110 and FOP, which may lead to stem cell leukemia lymphoma (SCLL) .