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  4. OSTM1 Antibody

OSTM1 Antibody

  • 中文名稱：
    OSTM1兔多克隆抗體
  • 貨號：
    CSB-PA017268GA01HU
  • 規(guī)格：
    ￥3,900
  • 其他：

產(chǎn)品詳情

  • Uniprot No.：
  • 基因名：
    OSTM1
  • 別名：
    Chloride channel 7 beta subunit antibody; GAIP-interacting protein N terminus antibody; GIPN antibody; GL antibody; Grey lethal osteopetrosis antibody; HSPC019 antibody; OPTB5 antibody; Osteopetrosis-associated transmembrane protein 1 antibody; Ostm1 antibody; OSTM1_HUMAN antibody; OTTHUMP00000016938 antibody; OTTHUMP00000196342 antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human,Mouse,Rat
  • 免疫原：
    Human OSTM1
  • 免疫原種屬：
    Homo sapiens (Human)
  • 抗體亞型：
    IgG
  • 純化方式：
    Antigen Affinity purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產(chǎn)品提供形式：
    Liquid
  • 應(yīng)用范圍：
    ELISA,WB
  • Protocols：
  • 儲存條件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
  • 用途：
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評價(jià)

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