FGFR-2 beta (IIIc) Protein, Human (267a.a, HEK293, His)

FGFR-2 beta IIIc protein, a member of the fibroblast growth factor receptor family, exhibits a highly conserved amino acid sequence among family members and throughout evolution. Distinguished by variations in ligand affinities and tissue distribution, the full-length protein comprises an extracellular region with three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment, and a cytoplasmic tyrosine kinase domain. Interactions between the extracellular portion of the protein and fibroblast growth factors initiate a signaling cascade, influencing mitogenesis and differentiation. FGFR-2 beta IIIc serves as a high-affinity receptor for acidic, basic, and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are linked to various craniosynostosis syndromes, including Crouzon syndrome, Pfeiffer syndrome, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and other syndromic craniosynostoses. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, highlighting the complexity and diversity of this gene's expression. The gene is broadly expressed in various tissues, including skin and thyroid.