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Recombinant Human N-acetylglucosamine-6-sulfatase (GNS)

  • 中文名稱:
    人GNS重組蛋白
  • 貨號(hào):
    CSB-YP009639HU
  • 規(guī)格:
  • 來源:
    Yeast
  • 其他:
  • 中文名稱:
    人GNS重組蛋白
  • 貨號(hào):
    CSB-EP009639HU
  • 規(guī)格:
  • 來源:
    E.coli
  • 其他:
  • 中文名稱:
    人GNS重組蛋白
  • 貨號(hào):
    CSB-EP009639HU-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GNS重組蛋白
  • 貨號(hào):
    CSB-BP009639HU
  • 規(guī)格:
  • 來源:
    Baculovirus
  • 其他:
  • 中文名稱:
    人GNS重組蛋白
  • 貨號(hào):
    CSB-MP009639HU
  • 規(guī)格:
  • 來源:
    Mammalian cell
  • 其他:

產(chǎn)品詳情

  • 純度:
    >85% (SDS-PAGE)
  • 基因名:
    GNS
  • Uniprot No.:
  • 別名:
    2610016K11Rik; AU042285; C87209; G6S; Glucosamine (N-acetyl) 6 sulfatase; Glucosamine 6 sulfatase; Glucosamine-6-sulfatase; GNS; GNS_HUMAN; MGC21274; N acetylglucosamine 6 sulfatase [Precursor]; N-acetylglucosamine-6-sulfatase; N28088
  • 種屬:
    Homo sapiens (Human)
  • 蛋白長度:
    Full Length of Mature Protein
  • 表達(dá)區(qū)域:
    37-552
  • 氨基酸序列
    VFGV AAGTRRPNVV LLLTDDQDEV LGGMTPLKKT KALIGEMGMT FSSAYVPSAL CCPSRASILT GKYPHNHHVV NNTLEGNCSS KSWQKIQEPN TFPAILRSMC GYQTFFAGKY LNEYGAPDAG GLEHVPLGWS YWYALEKNSK YYNYTLSING KARKHGENYS VDYLTDVLAN VSLDFLDYKS NFEPFFMMIA TPAPHSPWTA APQYQKAFQN VFAPRNKNFN IHGTNKHWLI RQAKTPMTNS SIQFLDNAFR KRWQTLLSVD DLVEKLVKRL EFTGELNNTY IFYTSDNGYH TGQFSLPIDK RQLYEFDIKV PLLVRGPGIK PNQTSKMLVA NIDLGPTILD IAGYDLNKTQ MDGMSLLPIL RGASNLTWRS DVLVEYQGEG RNVTDPTCPS LSPGVSQCFP DCVCEDAYNN TYACVRTMSA LWNLQYCEFD DQEVFVEVYN LTADPDQITN IAKTIDPELL GKMNYRLMML QSCSGPTCRT PGVFDPGYRF DPRLMFSNRG SVRTRRFSKH LL
  • 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(chǔ)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(píng)價(jià)

靶點(diǎn)詳情

  • 基因功能參考文獻(xiàn):
    1. Mice deficient in GNS showed lysosomal storage pathology and a phenotype that closely resembled human MPSIIID. Moreover, treatment of the GNS-deficient animals with GNS-encoding adeno-associated viral (AAV) vectors of serotype 9 delivered to the cerebrospinal fluid completely corrected pathological storage, improved lysosomal functionality in the CNS and somatic tissues, resolved neuroinflammation PMID: 28334745
    2. 12 new patients and 15 novel mutations were identified in Mucopolysaccharidosis type IIID. PMID: 20232353
    3. The Sanfilippo syndrome type D patient was found to be homozygous for a single base pair deletion (c1169delA), which will cause a frameshift and premature termination of N-acetylglucosamine-6-sulphatase. PMID: 12624138
    4. A large intragenic deletion of 8723 bp encompassing exons 2 and 3 has been identified, the first large intragenic deletion to be reported in any of the four Sanfilippo subtypes. Q272X has also been found. PMID: 16990043
    5. Sanfilippo syndrome type D has 3 novel mutations in the GNS Gene. PMID: 17998446
    6. We identified the novel homozygous single base pair insertion, c.1226GinsG, which leads to a frame-shift and a premature truncation of the GNS protein (p.R409Rfs21X). PMID: 19650410

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  • 相關(guān)疾病:
    Mucopolysaccharidosis 3D (MPS3D)
  • 亞細(xì)胞定位:
    Lysosome.
  • 蛋白家族:
    Sulfatase family
  • 數(shù)據(jù)庫鏈接:

    HGNC: 4422

    OMIM: 252940

    KEGG: hsa:2799

    STRING: 9606.ENSP00000258145

    UniGene: Hs.334534



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