| Description : |
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. |
| Form : |
Lyophilised:It is recommended that 0.5 ml of sterile phosphate-buffered saline be added to the vial.Following reconstitution short-term storage at 4°C is recommended, and longer-term storage of aliquots at -18 to -20°C. Repeated freeze thawing is not reco |
| Purity : |
>95% by SDS-PAGE |
| Storage buffer : |
Preservative: NoneConstituents: 10% Trehalose, 1% Human serum albumin |
| Storage : |
Store at +4°C. |
| Sequences of amino acids : |
Theoretical Sequence:RPSPTLPEQAQPWGAPVEVESFLVH PGDL LQLRCRLRDDVQSINWLRDGVQLAE SNRTRITGEEVEV QDSVPADSGLYACVTSSPSGSDTTY FSVNVSDALPSSEDD DDDDDSSSEEKETDNTKPNRMPVAP YWTSPEKMEKKLH AVPAAKTVKFKCPSSGTPNPTLRWL KNGKEFKPDHRIGGY KVRYATWSIIMDSVVPSDKGNYTCI VENEYGSINHTYQ LDVVERSPHRPILQAGLPANKTVAL GSNVEFMCKVYSD PQPHIQWLKHIEVNGSKIGPDNLPY VQILKTAGVNTTDKE MEVLHLRNVSFEDAGEYTCLAGNSI GLSHHSAWLTVLE ALEGIPKVDKKVEPKSCDKTHTCPP CPAPELLGGPSVFLFPPKPKDTLMI SRTPEVTCVVVDVSHEDPEVKFNWY VDG VEVHNAKTKPREEQYNSTYRVVSVL TVLHQDWLNGKEY KCRVSNKALPAPIEKTISKAKGQPR EPQVYTLPPSRDELT KNQVSLTCLVKGFYPSDIAVEWESN GQPENNYKTTPPV LDSDGSFFLYSKLTVDKSRWQQGNV FSCSVMHEALHNH YTQKSLSLSPGK |
