Recombinant Human c-Kit (mutated D816I) Protein (Active) (RMPP-00230483)
Cat. No.: RMPP-00230483
Category: Growth Factors & Cytokines
Research Area: Signal Transduction
INQUIRY
5 μg
Customer Size
Product Features
| Source | E.coli |
|---|---|
| Purity | > 95% SDS-PAGE. Purity is greater than 95% by SDS-PAGE gel and HPLC analyses. |
| Nature | Recombinant |
| Animal Free | No |
| Form | Lyophilized |
| Applications | HPLC; Functional Studies; SDS-PAGE |
| Key Features | Expression system: E.coli; Purity: > 95% SDS-PAGE; Active: Yes; Suitable for: HPLC, Functional Studies, SDS-PAGE |
Protein Information
| UniProt ID | Q9GZV9 |
|---|---|
| Molecular Weight | 26 kDa |
| Sequence | MYPDTSPLLG SNWGSLTHLY TATARTSYHL QIHRDGHVDG TPHQTIYSAL MITSEDAGSV VITGAMTRRF LCMDLHGNIF GSLHFSPENC KFRQWTLENG YDVYLSQKHH YLVSLGRAKR IFQPGTNPPP FSQFLARRNE VPLLHFYTVR PRRHTRSAED PPERDPLNVL KPRPRATPVP VSCSRELPSA EEGGPAASDP LGVLRRGRGD ARGGAGGADR CRPFPRFV |
| Sequence Similarities | Belongs to the heparin-binding growth factors family. |
| Protein Length | Full length protein |
| Cellular Localization | Secreted. Secretion is dependent on O-glycosylation. |
| Tissue Specificity | Expressed in osteogenic cells particularly during phases of active bone remodeling. In adult trabecular bone, expressed in osteocytes and flattened bone-lining cells (inactive osteoblasts). |
| Function | Regulator of phosphate homeostasis. Inhibits renal tubular phosphate transport by reducing SLC34A1 levels. Upregulates EGR1 expression in the presence of KL (By similarity). Acts directly on the parathyroid to decrease PTH secretion (By similarity). Regulator of vitamin-D metabolism. Negatively regulates osteoblast differentiation and matrix mineralization. |
| Involvement in Disease | Defects in FGF23 are the cause of autosomal dominant hypophosphataemic rickets (ADHR). ADHR is characterized by low serum phosphorus concentrations, rickets, osteomalacia, leg deformities, short stature, bone pain and dental abscesses.Defects in FGF23 are a cause of hyperphosphatemic familial tumoral calcinosis (HFTC). HFTC is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. |
| Post-translational Modifications | Following secretion this protein is inactivated by cleavage into a N-terminal fragment and a C-terminal fragment. The processing is effected by proprotein convertases.O-glycosylated by GALT3. Glycosylation is necessary for secretion; it blocks processing by proprotein convertases when the O-glycan is alpha 2,6-sialylated. Competition between proprotein convertase cleavage and block of cleavage by O-glycosylation determines the level of secreted active FGF23. |
Storage & Shipping
| Shipping and Storage | Shipped at 4°C. Store at -20°C or -80°C. Avoid freeze / thaw cycle. 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.
