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  4. Recombinant Human Sodium-dependent phosphate transport protein 2C (SLC34A3), partial

Recombinant Human Sodium-dependent phosphate transport protein 2C (SLC34A3), partial

  • 中文名稱：
    人SLC34A3重組蛋白
  • 貨號：
    CSB-YP854015HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人SLC34A3重組蛋白
  • 貨號：
    CSB-EP854015HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人SLC34A3重組蛋白
  • 貨號：
    CSB-EP854015HU-B
  • 規(guī)格：
  • 來源：
    E.coli
  • 共軛：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名稱：
    人SLC34A3重組蛋白
  • 貨號：
    CSB-BP854015HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人SLC34A3重組蛋白
  • 貨號：
    CSB-MP854015HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    SLC34A3
  • Uniprot No.：
  • 別名：
    HHRH ; Na(+) dependent phosphate cotransporter 2C ; Na(+) Pi cotransporter 2C; Na(+)-dependent phosphate cotransporter 2C; Na(+)/Pi cotransporter 2C; NaPi 2c; NaPi-2c; NPT2C ; NPT2C_HUMAN; NPTIIC ; SLC34A3; Sodium dependent phosphate transport protein 2C; Sodium inorganic phosphate cotransporter IIC; Sodium phosphate cotransporter 2C; Sodium phosphate transport protein 2C ; Sodium-dependent phosphate transport protein 2C; Sodium-phosphate transport protein 2C; Sodium/inorganic phosphate cotransporter IIC; Sodium/inorganic phosphate cotransporter; type IIC; Sodium/phosphate cotransporter 2C; solute carrier family 34 (sodium phosphate) member 3; solute carrier family 34 (sodium/phosphate contransporter); member 3; solute carrier family 34 (type II sodium/phosphate contransporter); member 3; Solute carrier family 34 member 3; type IIc Na+ Pi cotransporter ; Type IIc Na+/Pi cotransporter
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 蛋白標(biāo)簽：
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 產(chǎn)品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 復(fù)溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 儲存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 貨期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事項(xiàng)：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

產(chǎn)品評價

靶點(diǎn)詳情

  • 功能：
    May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 20-30% of the apical influx.
  • 基因功能參考文獻(xiàn)：
    1. genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3 PMID: 29505567
    2. This is the report of a patient with compound heterozygous mutations of SLC34A3 and normal skeletal features. Biallelic mutations in SLC34A3 can thus be associated with hypercalciuria not accompanied by rickets. PMID: 24924704
    3. Individuals with mutations affecting both SLC34A3 alleles had a significantly increased risk of kidney stone formation or medullary nephrocalcinosis, namely 46% compared with 6% observed in healthy family members carrying only the wild-type allele. PMID: 24700880
    4. this study reports the first cases of hereditary hypophosphatemic rickets with hypercalciuria in Africa and describes a novel causal mutation within the SLC34A3 gene PMID: 23246670
    5. A man with hereditary hypophosphataemic rickets with hypercalciuria & his 3 heterozygous children had a mutation in intron 5 of gene SLC34A3 (NM_080877.2:c[ 448 +5G>A] + [ 448 +5G>A]). PMID: 22806288
    6. Data show 101-bp deletion in intron 9 of the SLC34A3 gene. PMID: 22672866
    7. SLC34A3 mutations (exons and introns) were searched in two previously not reported hereditary hypophosphatemic rickets with hypercalciuria kindreds, which resulted in the identification of three novel mutations. PMID: 22387237
    8. these data suggest that mutations in SLC34A3 in hereditary hypophosphatemic rickets with hypercalciuria result in defective processing and stability PMID: 22159077
    9. Functionally important sites in the predicted first and fourth extracellular linkers of the type IIa Na+/Pi cotransporter (NaPi-IIa) were identified by cysteine scanning mutagenesis (Ehnes et al., 2004). PMID: 15504899
    10. NaP(i)-IIc has a key role in the regulation of phosphate homeostasis. PMID: 16358214
    11. Loss of function of the SLC34A3 protein presumably results in a primary renal tubular defect and is compatible with the hereditary hypophosphatemic rickets with hypercalciuria phenotype. PMID: 16358215
    12. Therefore, understanding the mechanisms that control the apical expression of NaPi-IIa and NaPi-IIc as well as their functional properties is critical to understanding how an organism achieves P i homeostasis. PMID: 16955105
    13. Hereditary hypophosphatemic rickets with hypercalciuria were speculated to be associated with the abnormal functions of phosphate transporter gene type IIc. PMID: 17968493
    14. A novel missense mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in humans. PMID: 18480181
    15. Novel mutation in the SLC34A3 gene in a patient with an unusual presentation of hereditary hypophosphatemic rickets with hypercalciuria. PMID: 19820004

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  • 相關(guān)疾病：
    Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
  • 亞細(xì)胞定位：
    Membrane; Multi-pass membrane protein.
  • 蛋白家族：
    SLC34A transporter family
  • 數(shù)據(jù)庫鏈接：

    HGNC: 20305

    OMIM: 241530

    KEGG: hsa:142680

    STRING: 9606.ENSP00000355353

    UniGene: Hs.432442



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