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  4. Recombinant Human Transmembrane protein 43 (TMEM43), partial

Recombinant Human Transmembrane protein 43 (TMEM43), partial

  • 货号：
    CSB-YP023840HU1
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP023840HU1
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP023840HU1-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    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：
  • 货号：
    CSB-BP023840HU1
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP023840HU1
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    TMEM43
  • Uniprot No.：
  • 别名：
    TMEM43; UNQ2564/PRO6244; Transmembrane protein 43; Protein LUMA
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    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.
  • 产品提供形式：
    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.
  • 复溶：
    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.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    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.
  • 货期：
    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.
  • 注意事项：
    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.

产品评价

靶点详情

  • 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.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5); Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7)
  • 亚细胞定位：
    Endoplasmic reticulum. Nucleus inner membrane; Multi-pass membrane protein.
  • 蛋白家族：
    TMEM43 family
  • 组织特异性：
    Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis.
  • 数据库链接：

    HGNC: 28472

    OMIM: 604400

    KEGG: hsa:79188

    STRING: 9606.ENSP00000303992

    UniGene: Hs.517817