Recombinant Human FGFR3 (mutated K650E) Protein (Active) (RMPP-00230622)
Cat. No.: RMPP-00230622
Category: Recombinant Protein
Research Area: Immunology
INQUIRY
5 μg
Customer Size
Product Features
| Source | HEK 293 cells |
|---|---|
| Purity | > 95% SDS-PAGE. |
| Nature | Recombinant |
| Endotoxin Level | < 1.000 Eu/µg |
| Animal Free | No |
| Tags | Fc tag C-Terminus |
| Form | Lyophilized |
| Applications | SDS-PAGE; ELISA |
| Key Features | Expression system: HEK 293 cells; Purity: > 95% SDS-PAGE; Endotoxin level: < 1.000 Eu/µg; Active: Yes; Tags: Fc tag C-Terminus; Suitable for: SDS-PAGE, ELISA |
Protein Information
| UniProt ID | P42702 |
|---|---|
| Molecular Weight | 116 kDa |
| Sequence | QKKGAPHDLKCVTNNLQVWNCSWKAPSGTGRGTDYEVCIENRSRSCYQLE KTSIKIPALSHGDYEITINSLHDFGSSTSKFTLNEQNVSLIPDTPEILNL SADFSTSTLYLKWNDRGSVFPHRSNVIWEIKVLRKESMELVKLVTHNTTL NGKDTLHHWSWASDMPLECAIHFVEIRCYIDNLHFSGLEEWSDWSPVKNI SWIPDSQTKVFPQDKVILVGSDITFCCVSQEKVLSALIGHTNCPLIHLDG ENVAIKIRNISVSASSGTNVVFTTEDNIFGTVIFAGYPPDTPQQLNCETH DLKEIICSWNPGRVTALVGPRATSYTLVESFSGKYVRLKRAEAPTNESYQ LLFQMLPNQEIYNFTLNAHNPLGRSQSTILVNITEKVYPHTPTSFKVKDI NSTAVKLSWHLPGNFAKINFLCEIEIKKSNSVQEQRNVTIKGVENSSYLV ALDKLNPYTLYTFRIRCSTETFWKWSKWSNKKQHLTTEASPSKGPDTWRE WSSDGKNLIIYWKPLPINEANGKILSYNVSCSSDEETQSLSEIPDPQHKA EIRLDKNDYIISVVAKNSVGSSPPSKIASMEIPNDDLKIEQVVGMGKGIL LTWHYDPNMTCDYVIKWCNSSRSEPCLMDWRKVPSNSTETVIESDEFRPG IRYNFFLYGCRNQGYQLLRSMIGYIEELAPIVAPNFTVEDTSADSILVKW EDIPVEELRGFLRGYLFYFGKGERDTSKMRVLESGRSDIKVKNITDISQK TLRIADLQGKTSYHLVLRAYTDGGVGPEKSMYVVTKENS |
| Sequence Similarities | Belongs to the type I cytokine receptor family. Type 2 subfamily. Contains 6 fibronectin type-III domains. |
| Protein Length | Protein fragment |
| Cellular Localization | Secreted and Cell membrane. |
| Domain | The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.The box 1 motif is required for JAK interaction and/or activation. |
| Function | Signal-transducing molecule. May have a common pathway with IL6ST. The soluble form inhibits the biological activity of LIF by blocking its binding to receptors on target cells. |
| Involvement in Disease | Defects in LIFR are the cause of Stueve-Wiedemann syndrome (SWS); also knowns as Schwartz-Jampel syndrome type 2 (SJS2). SWS is a severe autosomal recessive condition and belongs to the group of the bent-bone dysplasias. SWS is characterized by bowing of the lower limbs, with internal cortical thickening, wide metaphyses withthis product trabecular pattern, and camptodactyly. Additional features include feeding and swallowing difficulties, as well as respiratory distress and hyperthermic episodes, which cause death in the first months of life. The rare survivors develop progressive scoliosis, spontaneous fractures, bowing of the lower limbs, with prominent joints and dysautonomia symptoms, including temperature instability, absent corneal and patellar reflexes, and smooth tongue.Note=A chromosomal aberration involving LIFR is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. Translocation t(5;8)(p13;q12) with PLAG1. |
Storage & Shipping
| Shipping and Storage | Shipped at 4°C. Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle. pH: 7.4Constituents: Tris, Glycine, L-Arginine, Sodium chloride This product is an active protein and may elicit a biological response in vivo, handle with caution. |
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For research use only. Not for clinical use.
