FGFR-1 beta Protein, Human (HEK293, hFc)

The FGFR-1 beta protein is a highly conserved member of the fibroblast growth factor receptor (FGFR) family, sharing a similar amino acid sequence with other members. FGFR family members exhibit different affinities for ligands and are distributed across various tissues. The full-length protein consists of an extracellular region with three immunoglobulin-like domains, a hydrophobic membrane-spanning segment, and a cytoplasmic tyrosine kinase domain. The extracellular portion interacts with fibroblast growth factors, initiating downstream signals that regulate mitogenesis and differentiation. FGFR-1 beta specifically binds to both acidic and basic fibroblast growth factors and plays a role in limb induction. Mutations in this gene have been associated with several syndromes and disorders, including Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are linked to stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Various alternatively spliced variants encoding different protein isoforms have been identified, although not all variants have been fully characterized. The FGFR-1 beta protein exhibits ubiquitous expression in multiple tissues, including the ovary, fat, and 25 other tissues.