The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) 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 have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized.
Applications:
ELISA, WB, IF
Name of antibody:
FGFR1 (mutated R576W)
Immunogen:
A synthetic peptide from the internal region of human FGFR1 which includes the mutation of R576W
The image is immunofluorescence of HEK293T cells transfected with pCDNA3-GFP-FGFR1 (WT) plasmid (left column) or pCDNA3-GFP-FGFR1 (mutated R576W) plasmid (right column) using D19550.5(FGFR1 (mutated R576W) Antibody) at dilution 1/50.
Gel: 6%SDS-PAGE, Lysate: 50 ng, Lane 1-2: Purified His-tagged FGFR1 (mutated R576W) protein (amino acids 478-767, 38KD) and corresponding wild-type protein, Primary antibody: D195505(FGFR1 (mutated R576W) Antibody) at dilution 1/500, Secondary antibody: Goat anti mouse IgG at 1/5000 dilution, Exposure time: 30 seconds