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14-617 FGFR2 Protein, active, 10 µg

Active, N-terminal, His6-tagged, recombinant, human FGFR2, amino acids 456-770, for use in Kinase Assays.

FGFR2 Protein, active, 10 µg: SDB (Sicherheitsdatenblätter), Analysenzertifikate und Qualitätszertifikate, Dossiers, Broschüren und andere verfügbare Dokumente.
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14-617
10 µg  
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      Übersicht

      Replacement Information
      Description
      Catalogue Number14-617
      Brand Family Upstate
      Trade Name
      • Upstate
      DescriptionFGFR2 Protein, active, 10 µg
      OverviewN-terminal, His6-tagged, recombinant, human FGFR2, amino acids 456-770
      References
      Product Information
      Quality LevelMQ100
      Applications
      ApplicationActive, N-terminal, His6-tagged, recombinant, human FGFR2, amino acids 456-770, for use in Kinase Assays.
      Key Applications
      • Kinase Assay
      Biological Information
      Sourceexpressed by baculovirus in Sf21 insect cells
      Specific ActivityFor Specific Activity data, refer to the Certificate of Analysis for individual lots of this enzyme.
      Entrez Gene Number
      Entrez Gene SummaryThe 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 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 is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized.
      Gene Symbol
      • FGFR2
      • CD332
      • JWS
      • FGFR-2
      • ECT1
      • CFD1
      • TK25
      • CEK3
      • TK14
      • BEK
      • KGFR
      • K-SAM
      • BFR-1
      • KSAM
      Protein TargetFGFR2
      Purification MethodNi2+/NTA-agarose
      Target Sub-FamilyTK
      UniProt Number
      UniProt SummaryFUNCTION: SwissProt: P21802 # Receptor for acidic and basic fibroblast growth factors.
      SIZE: 821 amino acids; 92025 Da
      SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. & Isoform 14: Secreted. & Isoform 19: Secreted.
      DISEASE: SwissProt: P21802 # Defects in FGFR2 are a cause of Crouzon syndrome (CS) [MIM:123500]; also called craniofacial dysostosis type I (CFD1). CS is an autosomal dominant syndrome 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 FGFR2 are a cause of Jackson-Weiss syndrome (JWS) [MIM:123150]. JWS is an autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet: broad great toes with medial deviation and tarsal-metatarsal coalescence. & Defects in FGFR2 are a cause of Apert syndrome (AS) [MIM:101200]; also known as acrocephalosyndactyly type I (ACS1). AS is characterized by craniosynostosis (premature fusion of the skull sutures) and severe syndactyly (cutaneous and bony fusion of the digits). AS inheritance is autosomal dominant. & Defects in FGFR2 are a cause of Pfeiffer syndrome (PS) [MIM:101600]; also known as acrocephalosyndactyly type V (ACS5). PS is characterized by craniosynostosis (premature fusion of the skull sutures) with deviation and enlargement of the thumbs and great toes, brachymesophalangy, with phalangeal ankylosis and a varying degree of soft tissue syndactyly. Three subtypes of Pfeiffer syndrome have been described: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3). & Defects in FGFR2 are the cause of Beare-Stevenson cutis gyrata syndrome (BSCGS) [MIM:123790]. BSCGS is an autosomal dominant condition is characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities and early death. & Defects in FGFR2 are the cause of familial scaphocephaly syndrome [MIM:609579]; also known as scaphocephaly with maxillary retrusion and mental retardation. This autosomal dominant craniosynostosis syndrome is characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability. & Defects in FGFR2 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 FGFR2 are the cause of Antley-Bixler syndrome (ABS) [MIM:207410]. ABS is a multiple congenital anomaly syndrome characterized by craniosynostosis, radiohumeral synostosis, midface hypoplasia, malformed ears, arachnodactyly and multiple joint contractures. ABS is a heterogeneous disorder and occurs with and without abnormal genitalia in both sexes.
      SIMILARITY: SwissProt: P21802 ## 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 Weight38kDa
      Physicochemical Information
      Dimensions
      Materials Information
      Toxicological Information
      Safety Information according to GHS
      Safety Information
      Product Usage Statements
      Quality Assuranceroutinely evaluated by phosphorylation of 0.1mg/ml Poly (Glu4-Tyr)
      Usage Statement
      • Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
      Storage and Shipping Information
      Storage Conditions6 months at -70°C
      Packaging Information
      Material Size10 µg
      Transport Information
      Supplemental Information
      Specifications
      Global Trade Item Number
      Bestellnummer GTIN
      14-617 04053252509476