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  4. TMEM127 Antibody, Biotin conjugated

TMEM127 Antibody, Biotin conjugated

说明书
  • 中文名称：
    TMEM127兔多克隆抗体, Biotin偶联
  • 货号：
    CSB-PA023694LD01HU
  • 规格：
    ￥880
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) TMEM127 Polyclonal antibody
  • Uniprot No.：
    O75204
  • 基因名：
    TMEM127
  • 别名：
    TMEM127; Transmembrane protein 127
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Transmembrane protein 127 protein (1-95AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Biotin
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA
  • Protocols：
    ELISA Protocol
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

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TMEM127 antibodies

TMEM127 Proteins

靶点详情

  • 功能：
    Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1. May act as a tumor suppressor.
  • 基因功能参考文献：
    1. Of which 4 SDHB and 2 TMEM127 mutations were novel. PMID: 26960314
    2. Hereditary pheochromocytoma / paraganglioma associated with TMEM127 gene mutations has more aggressive course,bilateral adrenal involvement, higher recurrence rate, younger age at disease manifestations. PMID: 26591561
    3. We report the first case of an individual with both a pheochromocytoma and a multilocular clear cell renal cell carcinoma driven by a novel germline mutation in the TMEM127 gene, with a sibling and 2 sons with the same mutation. PMID: 25800244
    4. Tumor multicentricity, nodular adrenomedullary hyperplasia, and the occurrence of symptoms more than a decade earlier than the age at diagnosis are novel findings in TMEM127-related pheochromocytoma. PMID: 25389632
    5. A male patient with sporadic adrenal pheochromocytoma presents with a novel TMEM127 germline mutation, p. Gln139X. PMID: 23551308
    6. TMEM127 protein localizes in lysosomes in HeLa cells PMID: 21752829
    7. report shows that TMEM127 mutation plays a pathological role in pheochromocytoma in an Asian population. PMID: 22541004
    8. TMEM127 is a novel pheochromocytoma susceptibility gene.[review] PMID: 21447639
    9. TMEM127 germline mutations confer risks of extraadrenal paraganglial tumors in addition to the documented adrenal pheochromocytoma. PMID: 21613359
    10. Pathological and genomic data demonstrated that a TMEM127 gene mutation not previously described was causative of a new case of familial bilateral pheochromocytoma. PMID: 20923864
    11. Germline mutations of FP/TMEM127 were associated with pheochromocytoma but not paraganglioma and occurred in an age group frequently excluded from genetic screening algorithms; mutations disrupt intracellular distribution of the FP/TMEM127 protein. PMID: 21156949
    12. Germline mutations in TMEM127 confer susceptibility to pheochromocytoma and identify TMEM127 as a tumor suppressor gene. PMID: 20154675

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  • 相关疾病：
    Pheochromocytoma (PCC)
  • 亚细胞定位：
    Cell membrane; Multi-pass membrane protein. Cytoplasm.
  • 蛋白家族：
    TMEM127 family
  • 组织特异性：
    Widely expressed.
  • 数据库链接：

    HGNC: 26038

    OMIM: 171300

    KEGG: hsa:55654

    STRING: 9606.ENSP00000258439

    UniGene: Hs.164303

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