| Description | |
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| Catalogue Number | 14-464 |
| Brand Family | Upstate |
| Trade Name |
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| Description | FGFR3 Protein, active, 10 µg |
| Overview | Recombinant human FGFR residues 447-761, containing an N-terminal His6-tag. |
| Product Information | |
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| Quality Level | MQ100 |
| Applications | |
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| Application | Active, recombinant human FGFR residues 447-761, containing an N-terminal His6-tag. For use in Kinase Assays. |
| Key Applications |
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| Biological Information | |
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| Source | expressed in Sf21 cells. |
| Specific Activity | For Specific Activity data, refer to the Certificate of Analysis for individual lots of this enzyme. |
| Entrez Gene Number |
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| Entrez Gene Summary | The protein encoded by this gene is a member of the fibroblast growth factor receptor 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 would consist 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 acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Alternative splicing occurs and additional variants have been described, including those utilizing alternate exon 8 rather than 9, but their full-length nature has not been determined. |
| Gene Symbol |
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| Protein Target | FGFR3 |
| Purification Method | Ni2+/NTA-agarose |
| Target Sub-Family | TK |
| UniProt Number |
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| UniProt Summary | FUNCTION: SwissProt: P22607 # Receptor for acidic and basic fibroblast growth factors. Preferentially binds FGF1. SIZE: 806 amino acids; 87710 Da SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. 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. Epithelial cells show exclusively isoform 2 transcripts while fibroblastic cells show a mixture of isoform 1 and isoform 2. DISEASE: SwissProt: P22607 # Defects in FGFR3 are the cause of achondroplasia (ACH) [MIM:100800]. ACH is an autosomal dominant disease and is the most frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. & Defects in FGFR3 are a cause of Crouzon syndrome [MIM:123500]; also called craniofacial dysostosis type I (CFD1). Crouzon syndrome is characterized by craniosynostosis (premature fusion of the skull sutures), hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism. & Defects in FGFR3 are the cause of platyspondylic lethal skeletal dysplasia Sand Diego type (PLSD-SD) [MIM:270230]. Platyspondylic lethal skeletal dysplasias (PLSDs) are a heterogeneous group of chondrodysplasias characterized by severe platyspondyly and limb shortening. PLSD-SD is characterized by postnatal growth deficiency, mild developmental delay, short trunk, craniofacial abnormalities, platyspondyly, delayed ossification, generalized osteoporosis and thin ribs. & Defects in FGFR3 are a cause of thanatophoric dysplasia (TD) [MIM:187600, 187601]; also known as thanatophoric dwarfism. TD is the most common neonatal lethal skeletal dysplasia. Affected individuals display features similar to those seen in homozygous achondroplasia. It causes severe shortening of the limbs with macrocephaly, narrow thorax and short ribs. In the most common subtype, TD1, femur are curved, while in TD2, straight femurs are associated with cloverleaf skull. Mutations affecting different functional domains of FGFR3 cause different forms of this lethal disorder. & Defects in FGFR3 are a cause of hypochondroplasia (HCH) [MIM:146000]. HCH is an autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype. & Defects in FGFR3 are a cause of bladder cancer [MIM:109800]. Somatic mutations can constitutively activate FGFR3. & Defects in FGFR3 are a cause of cervical cancer [MIM:603956]. & Defects in FGFR3 are the cause of camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]. CATSHL syndrome is an autosomal dominant syndrome characterized by permanent and irreducible flexion of one or more fingers of the hand and/or feet, tall stature, scoliosis and/or a pectus excavatum, and hearing loss. Affected individuals have developmental delay and/or mental retardation, and several of these have microcephaly. Radiographic findings included tall vertebral bodies with irregular borders and broad femoral metaphyses with long tubular shafts. On audiological exam, each tested member have bilateral sensorineural hearing loss and absent otoacoustic emissions. The hearing loss was congenital or developed in early infancy, progressed variably in early childhood, and range from mild to severe. Computed tomography and magnetic resonance imaging reveal that the brain, middle ear, and inner ear are structurally normal. & A chromosomal aberration involving FGFR3 may be a cause of multiple myeloma (MM) [MIM:254500]. Translocation t(4;14)(p16.3;q32.3) with the IgH locus. & Defects in FGFR3 are a cause of lacrimo-auriculo-dento- digital syndrome (LADD syndrome) [MIM:149730]; also known as Levy- Hollister syndrome. LADD syndrome is a form of ectodermal dysplasia. Ectodermal dysplasias (EDs) constitute a heterogeneous group of developmental disorders affecting tissues of ectodermal origin. EDs are characterized by abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. LADD syndrome is an autosomal dominant multiple congenital anomaly. It is characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup- shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed. & Defects in FGFR3 are a cause of keratinocytic non- epidermolytic nevus [MIM:162900]; also called pigmented moles. Epidermal nevi of the common, non-organoid and non-epidermolytic type are benign skin lesions and may vary in their extent from a single (usually linear) lesion to widespread and systematized involvement. They may be present at birth or develop early during childhood. & Defects in FGFR3 are a cause of Muenke syndrome [MIM:602849]; also known as Muenke non-syndromic coronal craniosynostosis. In addition to coronal craniosynostosis some affected individuals show skeletal abnormalities of hands and feet, sensorineural hearing loss, mental retardation and respiratory insufficiency. SIMILARITY: SwissProt: P22607 ## Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily. & Contains 3 Ig-like C2-type (immunoglobulin-like) domains. & Contains 1 protein kinase domain. |
| Molecular Weight | 36.8kDa |
| Product Usage Statements | |
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| Quality Assurance | routinely evaluated by phosphorylation of Poly (Glu4-Tyr) (4:1) substrate |
| Usage Statement |
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| Storage and Shipping Information | |
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| Storage Conditions | 1 year at -70 °C |
| Packaging Information | |
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| Material Size | 10 µg |
| Material Package | Also available in 250μg size (2x125μg)--call for pricing and availability and reference catalog number 14-464M when ordering the 250μg size. |