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  4. TMEM43 Antibody, HRP conjugated

TMEM43 Antibody, HRP conjugated

  • 中文名稱：
    TMEM43兔多克隆抗體, HRP偶聯
  • 貨號：
    CSB-PA023840LB01HU
  • 規格：
    ￥880
  • 其他：

產品詳情

  • 產品名稱：
    Rabbit anti-Homo sapiens (Human) TMEM43 Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    TMEM43
  • 別名：
    TMEM43; UNQ2564/PRO6244; Transmembrane protein 43; Protein LUMA
  • 宿主：
    Rabbit
  • 反應種屬：
    Human
  • 免疫原：
    Recombinant Human Transmembrane protein 43 protein (178-312AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標記方式：
    HRP
  • 克隆類型：
    Polyclonal
  • 抗體亞型：
    IgG
  • 純化方式：
    >95%, Protein G purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 產品提供形式：
    Liquid
  • 應用范圍：
    ELISA
  • 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.

產品評價

靶點詳情

  • 功能：
    May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane.
  • 基因功能參考文獻：
    1. TMEM43 deficiency significantly affects colony formation, survival of anoikis-induced cell death, migration and invasion of cancer cells in vitro, as well as tumor progression in vivo. PMID: 27991920
    2. A very rare mutation in TMEM 43 for the development of Arrhythmogenic cardiomyopathy has a definite connection with desmosomal proteins (plakoglobin) and justifies in a highly arrhythmogenic form of the disease. PMID: 27389450
    3. Implantable cardioverter defibrillator therapy is indicated for primary prevention in postpubertal males and in females >/= 30 years with the p.S358L TMEM43 mutation. PMID: 26966288
    4. Results suggest a link between missense mutation in this protein and the risk of familial ARVC PMID: 24598986
    5. These observations suggest that expression of the p.S358L mutant of TMEM43 found in ARVC type 5 may affect localization of proteins involved in conduction, alter gap junction function and reduce conduction velocity in cardiac tissue. PMID: 25343256
    6. ARVC due to p.S358L in TMEM43 is a variant form of ARVC with extreme variability of expression. It is sex influenced: males are more frequently hospitalized and have heart failure and SCD at a younger age than females. PMID: 22725725
    7. TMEM43 mutations occur outside of the founder population of the island of Newfoundland where it was originally described. PMID: 23812740
    8. full gene sequencing of TMEM43 in 143 ARVC probands (families) from the UK revealed three potential pathogenic variants (p.R312W, p.R28W, p.E142K). The p.R312W missense variant is a recurrent mutation due to a founder effect and is likely pathogenic. PMID: 23161701
    9. Ser358Leu mutant TMEM43 exhibits normal cellular localization and does not disrupt integrity and localization of other nuclear envelope and desmosomal proteins. PMID: 22458570
    10. The TMEM43 gene underlies a distinctive form of arrhythmogenic right ventricular cardiomyopathy (ARVC) which may share a final common pathway with desmosome-associated ARVC. PMID: 21214875
    11. The results of study suggested that mutant LUMAs may be associated with EDMD-related myopathy. PMID: 21391237
    12. Studies indicate that in 2007, the Newfoundland local research team discovered the causative mutation in a novel gene TMEM43 within the disease-associated founder haplotype. PMID: 20010364
    13. In families with arrhythmogenic right ventricular cardiomyopathy, there was found a missense mutation in a highly conserved transmembrane domain of TMEM43 and was predicted to be deleterious. PMID: 18313022
    14. LUMA (TMEM43) is a highly conserved protein located to inner nuclear membrane (INM) and interacting with A- and B-type lamins. It is particularly important for anchoring of emerin at the INM and may thus contribute to the pathogenesis of laminopathies. PMID: 18230648

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  • 相關疾病：
    Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5); Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7)
  • 亞細胞定位：
    Endoplasmic reticulum. Nucleus inner membrane; Multi-pass membrane protein.
  • 蛋白家族：
    TMEM43 family
  • 組織特異性：
    Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis.
  • 數據庫鏈接：

    HGNC: 28472

    OMIM: 604400

    KEGG: hsa:79188

    STRING: 9606.ENSP00000303992

    UniGene: Hs.517817