Moreover, fibroblasts, known as a member of a specific ligand CD331, receptor tyrosine kinases, fibroblast growth factor tyrosine kinase -2 / Pfeiffer syndrome 1 receptor basic fibroblast growth factor, FMS, associated receptor (FGFR1) growth factor 1. The FGFR1, to be associated with Pfeiffer syndrome was shown.

Amino acids are evolutionarily conserved and highly inter-member, wherein the protein the gene encodes is a member of fibroblast growth factor receptor (FGFR) family. FGFR family members, are different from each other and tissue distribution affinity ligands thereof. And three immunoglobulin-like domain, transmembrane hydrophobic segments, full-length Rep protein consisting of the extracellular domain consisting of cytoplasmic tyrosine kinase domain. Trigger a cascade of downstream signals affect the differentiation and mitosis Finally, the extracellular portion of the protein is reacted with fibroblast growth factor. Combines the basic fibroblast growth factor and acidic both this particular family members is involved in the induction of the extremities.

Mutations in this gene is associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bikusura syndrome, osteoglophonic dysplasia, lung squamous cell carcinoma, in autosomal dominant syndrome Karman. There is also strong evidence of sequence study of candidate genes involved in clefting, the mutation can be linked to the etiology of cleft lip and palate / or FGFR1 gene. Or isolated variants of DNA sequences including some one nonsense mutations have been reported in non-syndromic Cleft Palate. Only cleft lip both are observed in families with mutations FGFRI take with or without cleft palate and cleft palate. Cleft palate is a common feature relatively similar Kallmann’s syndrome. Somatic chromosome aberrations containing this gene is associated syndromes and myeloproliferative disorders of stem cells, leukemia, stem cell lymphoma. I is characterized completely listed are alternative splicing variant encoding a protein isoforms different, embodiments and not all. To interact with and FGF1, FRS2 GRB14, SHB have been shown to fibroblast growth factor receptor 1.

amino acids are evolutionarily conserved and highly inter-member, wherein the protein the gene encodes is a member of fibroblast growth factor receptor (FGFR) family. FGFR family members differ from each other  Tissue distribution and ligand affinity of them. And three immunoglobulin-like domain, transmembrane hydrophobic segments, full-length Rep protein consisting of the extracellular domain consisting of cytoplasmic tyrosine kinase domain. Trigger a cascade of downstream signals affect the differentiation and mitosis Finally, the extracellular portion of the protein is reacted with fibroblast growth factor. Combines the basic fibroblast growth factor and acidic both this particular family members is involved in the induction of the extremities. Mutations in this gene are associated with autosomal dominant syndrome Karman 2 Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bikusura syndrome, and osteoglophonic dysplasia. Chromosomal abnormalities, including the gene is associated with a stem cell leukemia and lymphoma myeloproliferative disease syndromes of stem cells. I is characterized completely listed are alternative splicing variant encoding a protein isoforms different, embodiments and not all.

Protein tyrosine kinase that plays an important role in the regulation acts as a receptor on the surface of cells in the fibroblast growth factor, embryonic development, cell proliferation, differentiation and migration. The axial tissue during embryonic development and the correct modeling of mesoderm usually necessary for normal development of gonadotropin releasing hormone (GnRH) neuronal system and normal skeletal formation. The phosphorylation of the SHB and PLCG1, FRS2, GAB1. Activating ligand results in signal transduction cascades few. Activating PLCG1 yield  Triphosphate – inositol 1,4,5 diacylglycerol and intracellular signaling molecules. Phosphorus to mediate the activation of MAP kinase and RAS recruitment of SOS1 and GRB2, GAB1, PIK3R1 FRS2 trigger, MAPK1/ERK2, and MAPK3/ERK1  Signaling pathways and Akt1 signaling pathway. I promote the phosphorylation of PTPN11/SHP2 and SHC1, STAT1. Improve the RPS6KA1 CREB1 and activities, in the core, and to contribute to the regulation of transcription. Down-regulated signaling, degradation and FGFR1 ubiquitination, and internalization by FGFR1 IL17RD/SEF

Fibroblast growth factor (a FGF) (FGF1 – 16-23 and 10) is a mitogenic signal transduction molecules that play a role in wound healing embryonic angiogenesis, cell migration, and neurite outgrowth. The FGF binds heparin sulfate glycosaminoglycan (HSGAGs) easily dimerization (activation) FGF receptor a (FGFR is). FGFR is a catalyst transmembrane receptor intracellular tyrosine kinases. There are four human gene encoding the FGFR that produce (FGFR1b, FGFR1c, FGFR2b the different receptors of seven,
FGFR2c by alternative splicing events in both the intracellular region and outside, FGFR3b, FGFR4 and FGFR3c). In alternative splicing isoforms, is a tissue-specific in general: B isoforms isoform is expressed in mesenchymal tissue, expressed in epithelial tissue. Cytoplasmic kinase domain can be activated and transphosphorylate the tyrosine residue, HSGAG-FGF-FGFR binding, to start the dimerization of FGFR. Further HSGAGs, stabilize the FGF-FGFR binding and functions to prevent deterioration of the FGF. There is evidence of crosstalk couple, and the Notch signaling pathway of FGFR MAPK intracellular signaling cascade PLCgamma, and PI3-K/Akt. Further, part of the active FGF-FGFR complexes is a function endocytosis and the cell nucleus and / or directly to the cytoplasm. Mutations in the FGFR genes, are the cause of developmental disorders of some human, which is characterized by skeletal abnormalities as may lead to cancer expression and cell transformation of strengthening FGFR with achondroplasia like this .