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  4. Recombinant Human Osteopetrosis-associated transmembrane protein 1 (OSTM1), partial

Recombinant Human Osteopetrosis-associated transmembrane protein 1 (OSTM1), partial

  • 中文名稱：
    人OSTM1重組蛋白
  • 貨號：
    CSB-YP769795HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人OSTM1重組蛋白
  • 貨號：
    CSB-EP769795HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人OSTM1重組蛋白
  • 貨號：
    CSB-EP769795HU-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OSTM1重組蛋白
  • 貨號：
    CSB-BP769795HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人OSTM1重組蛋白
  • 貨號：
    CSB-MP769795HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    OSTM1
  • Uniprot No.：
  • 別名：
    Chloride channel 7 beta subunit; GAIP-interacting protein N terminus; GIPN; GL; Grey lethal osteopetrosis; HSPC019; OPTB5; Osteopetrosis-associated transmembrane protein 1; Ostm1; OSTM1_HUMAN; OTTHUMP00000016938; OTTHUMP00000196342
  • 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(jià)

相關(guān)產(chǎn)品

靶點(diǎn)詳情

  • 功能：
    Required for osteoclast and melanocyte maturation and function.
  • 基因功能參考文獻(xiàn)：
    1. Homozygous splice defect in OSTM1, coexisting with MANEAL mutation was identified in a patient with neurological disorder with brain iron accumulation. PMID: 28612835
    2. KIF5B is essential for Ostm1 intracellular dispersion. PMID: 26598607
    3. Ostm1 has a primary and autonomous role in neuronal homeostasis PMID: 24719316
    4. Common gating underlies the slow voltage activation of ClC-7. PMID: 23983121
    5. we describe for the first time homozygous microdeletions of different sizes affecting the OSTM1 gene in two unrelated consanguineous families with children suffering from neuronopathic infantile malignant osteopetrosi PMID: 23685543
    6. The authors show that both the aminoterminus and transmembrane span of the Ostm1 beta-subunit are required for ClC-7 Cl(-)/H(+)-exchange, whereas the Ostm1 transmembrane domain suffices for its ClC-7-dependent trafficking to lysosomes. PMID: 21527911
    7. mutation in the human GL gene leads to severe recessive osteopetrosis PMID: 12627228
    8. The human GIPN gene has 6 exons and 5 introns, and encodes a 334-aa protein. PMID: 12826607
    9. A novel mutation affecting the OSTM1 locus responsible for ARO. In addition to common clinical features of osteopetrosis, the patient developed a unique neuronal pathology that provided evidence for the role of OSTM1 in normal neuronal cell development. PMID: 17922613
    10. This study reports on a 12-month-old female with recessive OSMT1 mutations and neuroimaging findings suggesting a malignant infantile osteopetrosis. PMID: 17985267
    11. mutations in OSTM1 such as the C-terminal deletion mutant studied herein provoke dysregulation of the canonical Wnt/beta-catenin signaling pathway, providing a molecular basis for severe autosomal recessive osteopetrosis PMID: 18296023

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  • 相關(guān)疾病：
    Osteopetrosis, autosomal recessive 5 (OPTB5)
  • 亞細(xì)胞定位：
    Lysosome membrane; Single-pass type I membrane protein. Note=Requires CLCN7 to travel to lysosomes.
  • 蛋白家族：
    OSTM1 family
  • 數(shù)據(jù)庫鏈接：

    HGNC: 21652

    OMIM: 259720

    KEGG: hsa:28962

    STRING: 9606.ENSP00000193322

    UniGene: Hs.226780