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Recombinant Human Fibroblast growth factor receptor 3(FGFR3),partial (Active)

BHP10506111
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Involvement In Disease Achondroplasia (ACH); Crouzon syndrome with acanthosis nigricans (CAN); Thanatophoric dysplasia 1 (TD1); Thanatophoric dysplasia 2 (TD2); Hypochondroplasia (HCH); Bladder cancer (BLC); Cervical cancer (CERCA); Camptodactyly, tall stature, and hearing loss syndrome (CATSHLS); Multiple myeloma (MM); Lacrimo-auriculo-dento-digital syndrome (LADDS); Keratinocytic non-epidermolytic nevus (KNEN); Muenke syndrome (MNKS); Keratosis, seborrheic (KERSEB); Testicular germ cell tumor (TGCT); Achondroplasia, severe, with developmental delay and acanthosis nigricans (SADDAN)
Subcellular Location Isoform 1: Cell membrane, Single-pass type I membrane protein, Cytoplasmic vesicle, Endoplasmic reticulum
Uniprot P22607
Database Links

HGNC:3690

OMIM:100800

KEGG:hsa:2261

STRING:9606.ENSP00000339824

UniGene:Hs.1420
Function Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferation. Required for normal development of the inner ear. Phosphorylates PLCG1, CBL and FRS2. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Plays a role in the regulation of vitamin D metabolism. Mutations that lead to constitutive kinase activation or impair normal FGFR3 maturation, internalization and degradation lead to aberrant signaling. Over-expressed or constitutively activated FGFR3 promotes activation of PTPN11/SHP2, STAT1, STAT5A and STAT5B. Secreted isoform 3 retains its capacity to bind FGF1 and FGF2 and hence may interfere with FGF signaling.
Pathway MAPK signaling pathway; PI3K-Akt signaling pathway; Regulation of actin cytoskeleton; Ras signaling pathway; Signaling pathways regulating pluripotency of stem cells; Rap1 signaling pathway; Endocytosis
Protein Families Protein kinase superfamily, Tyr protein kinase family, Fibroblast growth factor receptor subfamily
Research Area Signal Transduction
Tissue Specificity Expressed in brain, kidney and testis. Very low or no expression in spleen, heart, and muscle. In 20- to 22-week old fetuses it is expressed at high level in kidney, lung, small intestine and brain, and to a lower degree in spleen, liver, and muscle. Isof
Purity Greater than 95% as determined by SDS-PAGE.
Storage Buffer Lyophilized from a 0.2 μm filtered 1xPBS, pH 7.4
Immunogen Species Homo Sapiens (Human)
SKU Supplier No. Size Your price Quantity
BHP10506111 CSB-AP003871HU 1mg $2900
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BHP10506111 CSB-AP003871HU 500ug $2030
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BHP10506111 CSB-AP003871HU 50ug $290
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