FGFR1 AntibodyPeptide-affinity purified goat antibody

BACKGROUND

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.

REFERENCES

FGF21 signalling pathway and metabolic traits - genetic association analysis. Kaess BM, et al. Eur J Hum Genet, 2010 Aug 18. PMID 20717167. Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate. Nikopensius T, et al. Birth Defects Res A Clin Mol Teratol, 2010 Jul 29. PMID 20672350. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. Jugessur A, et al. PLoS One, 2010 Jul 9. PMID 20634891. Basic fibroblast growth factor in the bone microenvironment enhances cell motility and invasion of Ewing's sarcoma family of tumours by activating the FGFR1-PI3K-Rac1 pathway. Kamura S, et al. Br J Cancer, 2010 Jul 27. PMID 20606682. Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the polish population. Mostowska A, et al. Birth Defects Res A Clin Mol Teratol, 2010 Jul. PMID 20544801.