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  4. Recombinant Human Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase (ALG8), partial

Recombinant Human Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase (ALG8), partial

  • 中文名稱：
    Recombinant Human Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase(ALG8),partial
  • 貨號：
    CSB-YP874818HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    Recombinant Human Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase(ALG8),partial
  • 貨號：
    CSB-EP874818HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    Recombinant Human Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase(ALG8),partial
  • 貨號：
    CSB-EP874818HU-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：
    Recombinant Human Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase(ALG8),partial
  • 貨號：
    CSB-BP874818HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    Recombinant Human Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase(ALG8),partial
  • 貨號：
    CSB-MP874818HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 別名：
    ALG8; HUSSY-02Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase; EC 2.4.1.265; Asparagine-linked glycosylation protein 8 homolog; Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase; Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 蛋白標簽：
    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：
    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

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靶點詳情

  • 功能：
    Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(1)Man(9)GlcNAc(2)-PP-Dol before it is transferred to the nascent peptide. Required for PKD1/Polycystin-1 maturation and localization to the plasma membrane of the primary cilia.
  • 基因功能參考文獻：
    1. used whole exome sequencing in a discovery cohort of 102 unrelated patients who were excluded for mutations in the 2 most common polycystic liver disease genes, PRKCSH and SEC63, to identify heterozygous loss-of-function mutations in 3 additional genes, ALG8, GANAB, and SEC61B. Similarly to PRKCSH and SEC63, these genes encode proteins that are integral to the protein biogenesis pathway in the endoplasmic reticulum. PMID: 28375157
    2. In ALG8-CDG, isoelectric focusing of transferrin in serum or plasma shows an abnormal sialotransferrin pattern. The diagnosis is confirmed by mutation analysis in ALG8; all patients reported so far had point mutations or small deletions PMID: 26066342
    3. We reviewed the clinical features in all nine previously reported patients diagnosed with ALG8-disorder of glycosylation with a special focus on their skin signs. PMID: 24555185
    4. Severe ALG8 congenital disorder of glycosylation(CDG-Ih) is associated with homozygosity for two novel missense mutations in exon 8 of ALG8 PMID: 22306853
    5. ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih. PMID: 19648040
    6. ALG8 splice site mutations and missense mutations causing ALG8 deficiency in patients with congenital disorders of glycosylation type Ih. PMID: 15235028

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  • 相關疾?。?/div>
    Congenital disorder of glycosylation 1H (CDG1H)
  • 亞細胞定位：
    Endoplasmic reticulum membrane; Multi-pass membrane protein.
  • 蛋白家族：
    ALG6/ALG8 glucosyltransferase family
  • 數(shù)據(jù)庫鏈接：

    HGNC: 23161

    OMIM: 608103

    KEGG: hsa:79053

    STRING: 9606.ENSP00000299626

    UniGene: Hs.503368