货号：14-617

品牌：Merck Millipore

规格：10Ug

目录价：￥6586.00

市场价格：￥5598.10

会员价格：￥5268.80

金山科研平台，产品价格货期咨询微信：jinshanbio Description: FGFR2, active View All» Trade Name: Upstate (Millipore) View All» Qty/Pk: 10 µg View All» Product Overview: N-terminal, His6-tagged, recombinant, human FGFR2, amino acids 456-770 View All» Key Applications: Kinase Assay View All» 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. View All» 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 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. View All» UniProt Summary: FUNCTION: 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. View All» Species: Human View All» Molecular Weight: 38kDa View All» Brand Family: Upstate View All» Source: expressed by baculovirus in Sf21 insect cells View All» Protein Target: FGFR2 View All» Storage Conditions: 6 months at -70°C View All» Target Sub-Family: TK View All» Promotional Text: This enzyme is part of KinaseProfiler™, a custom inhibitor selectivity discovery service. View All» Gene Symbol:

• FGFR2

• CD332

• JWS

• FGFR-2

• ECT1

• CFD1

• TK25

• CEK3

• TK14

• BEK

• KGFR

• K-SAM

• BFR-1

• KSAM
  View All» Product Name: FGFR2, active View All» Quality Assurance: routinely evaluated by phosphorylation of 0.1mg/ml Poly (Glu4-Tyr) View All» UniProt Number: P21802 View All» Specific Activity: For Specific Activity data, refer to the Certificate of Analysis for individual lots of this enzyme. View All» Entrez Gene Number:
  • NM_000141.3

  • NM_022970.2
    View All» Purification Method: Ni²⁺/NTA-agarose View All»
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