FGFR1 is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists 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 both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene can lead to Pfeiffer syndrome and Jackson-Weiss syndrome. The genomic organization of the gene is very similar to family members 2-4, encompassing 19 exons that are subject to complex alternative splicing, which allows for structural, tissue expression and ligand affinity variations among the isoforms.

HUMAN

2-8°C (short-term); -20°C (long-term)