Recombinant Human FGFR2a (IIIc) Fc (RMPP-00231545)
Cat. No.: RMPP-00231545
Category: Growth Factors & Cytokines
INQUIRY
10 μg
50 μg
The FGF family plays a central role during prenatal development and postnatal growth, and the regeneration of a variety of tissues, by promoting cellular proliferation and differentiation. The FGF ligands bind to a family of type I transmembrane tyrosine kinase receptors, which leads to dimerization and activation by sequential autophosphorylation of specific tyrosine residues. Four genes encoding structurally related FGF receptors (FGFR-1 to -4) are known. Alternative splicing of the mRNAs generates numerous forms of FGFR-1 to -3. Alternate forms of FGF receptors can exhibit different specificities with respect to ligand binding. For example, the form designated as FGFR1a (IIc) interacts predominantly with FGF-acidic (FGF1) and FGF-basic (FGF2). A frequent splicing event involving FGFR-1 and -2 results in receptors containing all three Ig domains, referred to as the alpha isoform, or only IgII and IgIII, referred to as the beta isoform. Only the alpha isoform has been identified for FGFR-3 and FGFR-4. Additional splicing events for FGFR-1 to -3, involving the C-terminal half of the IgIII domain encoded by two mutually exclusive alternative exons, generate FGF receptors with alternative IgIII domains (IIIb and IIIc). Recombinant Human FGFR2a (IIIc) is a 65.6 kDa protein containing 589 amino acids. Under reducing conditions, FGFR2a migrates between 100-110 kDa on SDS-PAGE gel.
Product Features
| Source | CHO cells |
|---|---|
| Purity | ≥ 95% by SDS-PAGE gel and HPLC analyses. |
| Nature | Recombinant |
| Endotoxin Level | < 1 Eu/μg |
| Modifications | mutated K526E |
| Cross Reactivity | Human, Mouse |
Protein Information
| UniProt ID | P21802 |
|---|---|
| Molecular Weight | 65.6 kDa |
| Sequence Similarities | 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. |
| Protein Length | Protein fragment |
| Cellular Localization | Secreted and Cell membrane. |
| Function | Receptor for acidic and basic fibroblast growth factors. |
| Involvement in Disease | Defects in FGFR2 are the cause of Crouzon syndrome (CS); 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). 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 (APRS); also known as acrocephalosyndactyly type 1 (ACS1). APRS is a syndrome characterized by facio-cranio-synostosis, osseous and membranous syndactyly of the four extremities, and midface hypoplasia. The craniosynostosis is bicoronal and results in acrocephaly of brachysphenocephalic type. Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits. Intellectual deficit is frequent and often severe, usually being associated with cerebral malformations.Defects in FGFR2 are a cause of Pfeiffer syndrome (PS); 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). 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 (FSPC); also known as scaphocephaly with maxillary retrusion and mental retardation. FSPC is an autosomal dominant craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability. Scaphocephaly is the most common of the craniosynostosis conditions and is characterized by a long, narrow head. It is due to premature fusion of the sagittal suture or from external deformation.Defects in FGFR2 are a cause of lacrimo-auriculo-dento-digital syndrome (LADDS); also known as Levy-Hollister syndrome. LADDS is a form of ectodermal dysplasia, a heterogeneous group of disorders due tothis product development of two or more ectodermal structures. LADDS is an autosomal dominant syndrome 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 andthis product genitalia have been reported. Craniosynostosis and severe syndactyly are not observed.Defects in FGFR2 are the cause of Antley-Bixler syndrome (ABS). 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 withoutthis product genitalia in both sexes. |
Storage & Shipping
| Shipping and Storage | Shipped on Dry Ice. |
|---|
For research use only. Not for clinical use.
