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  4. Recombinant Human Actin, alpha cardiac muscle 1 (ACTC1), partial

Recombinant Human Actin, alpha cardiac muscle 1 (ACTC1), partial

In Stock
  • 中文名稱：
  • 貨號：
    CSB-BP001221HU
  • 規(guī)格：
    ￥3168
  • 圖片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

產(chǎn)品詳情

  • 純度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
  • Uniprot No.：
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 來源：
    Baculovirus
  • 分子量：
    47.4 kDa
  • 表達(dá)區(qū)域：
    3-377aa
  • 氨基酸序列
    DDEETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白標(biāo)簽：
    C-terminal 6xHis-tagged
  • 產(chǎn)品提供形式：
    Liquid or 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.
  • 緩沖液：
    If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
  • 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：
    3-7 business days
  • 注意事項：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

產(chǎn)品評價

靶點詳情

  • 功能：
    Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
  • 基因功能參考文獻(xiàn)：
    1. These findings suggest that the familial ostium secundum atrial septal defect (ASDII)may be a result of an ACTC1 3'UTR gain-of-function mutation caused by the introduction of a new miR-139-5p target site. Our results provide the first evidence of a pathogenic mutation in the ACTC1 3'UTR that may be associated with familial isolated ASDII. PMID: 27139165
    2. In conclusion, given that ACTC1 upregulation is associated with improved muscle function in certain myopathies, we hypothesize that upregulation of ACTC1 may represent a compensatory response to androgen deprivation therapy-induced muscle loss PMID: 28756295
    3. highly penetrant, novel, heterozygous ACTC1I289T mutation is associated with a family with left ventricular noncompaction. PMID: 25201647
    4. We reported a case of mirror-type dextrocardia who developed HCM in adulthood exhibiting multiple genetic mutation related to sarcomere proteins PMID: 25863306
    5. A heterozygous missense mutation was found (c.251T>C, p.(Met84Thr)) in the ACTC1 gene PMID: 26061005
    6. The first step of hypertrophic cardiomyopathy pathogenesis with E99K is increased calcium sensitivity and decreased calcium cooperativity, which result in larger tension during partial activation to cause a diastolic problem. PMID: 25451174
    7. In this study, there was no association of the analyzed SNPs located in RASGRF1. GJD2, and ACTC1 with pathological myopia. PMID: 23834555
    8. In adult Hypertrophic Cardiomyopathy patients, thin-filament gene ACTC1 mutations are associated with increased likelihood of advanced Left Ventricular dysfunction and heart failure compared with thick-filament disease. PMID: 25524337
    9. Genetic variations at the ACTC1 gene may contribute to progression to chronic Chagas Cardiomyopathy PMID: 24367596
    10. Change in the ability of cMyBP-C to bind cardiac actin modified filaments might contribute to the development of disease. PMID: 24736382
    11. Our results provide further evidence supporting a causative role for ACTC1 mutations in ASD. Massively parallel sequencing of the exome allows for the detection of novel rare variants causing CHD without the limitations of a candidate gene approach. PMID: 24461919
    12. The authors demonstrate that clathrin promotes clustering of the vaccinia virus actin tail nucleator A36 and host N-WASP, which activates actin nucleation through the Arp2/3 complex. PMID: 22980331
    13. ACTC1 mutations Y166C and M305L are associated with hypertrophic cardiomyopathy PMID: 22643837
    14. Data show that HMGN2 inhibited the attachment of bacteria, and then decreased bacteria-induced ERK1/2 activation and actin polymerization, which might contribute to bacterial internalization into T24 cells. PMID: 21778192
    15. propose that the ACTC E99K mutation causes higher myofibrillar Ca(2+) sensitivity that is responsible for the sudden cardiac death, apical hypertrophy, and subsequent development of heart failure in humans and mice. PMID: 21622575
    16. Reduced ACTC1 expression might play a role in the onset of congenital heart defects through induction of cardiomyocyte apoptosis. PMID: 20962418
    17. Variations in ACTC1 is associated with refractive errors and myopia. PMID: 20835239
    18. E99K inhibits the activation of the thin filament by myosin strong-binding whereas R312H demonstrates enhanced calcium activation. PMID: 19799913
    19. Screening of MYH7, cardiac ACTC and TNNI3 genes in dilated cardiomyopathy patients revealed two missense mutations, seven silent mutations, two polymorphisms in MYH7 gene, and two missense mutations and one silent mutation pertaining to TNNI3 gene. PMID: 20086309
    20. actin has a function in cytoskeleton in mediating the spatial activation of Ras subfamily GTPases through the selective recruitment of GDP/GTP exchange factors PMID: 14988412
    21. We present two cases, a father and son, with a novel missense mutation in the alpha actin gene.(Phe375Cys) PMID: 16967490
    22. hypertrophic cardiomyopathy, left ventricular non-compaction (HCM and LVNC) may appear as overlapping entities. The ACTC E101K mutation should be considered in the genetic diagnosis of LVNC, apical HCM, and septal defects. PMID: 17611253
    23. The results indicate that ACTC1 mutations or reduced ACTC1 levels may lead to atrial septal defect without signs of cardiomyopathy. PMID: 17947298
    24. Functional effects of nemaline myopathy mutations on human skeletal alpha-actin. PMID: 18477565
    25. Nine distinct mutations, 7 of them in MYH7, 1 in ACTC, and 1 in TNNT2, were found unrelated adult probands with left ventricular noncompaction and no other congenital heart anomalies PMID: 18506004
    26. Gln(137) plays dual roles in actin polymerization, in both the conformational transition of the actin molecule and the mechanism of ATP hydrolysis PMID: 18515362
    27. Data show that comparable levels of cardiac alpha-actin in the extraocular muscles of human, pig and sheep to those in the heart. PMID: 18952430

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  • 相關(guān)疾病：
    Cardiomyopathy, dilated 1R (CMD1R); Cardiomyopathy, familial hypertrophic 11 (CMH11); Atrial septal defect 5 (ASD5)
  • 亞細(xì)胞定位：
    Cytoplasm, cytoskeleton.
  • 蛋白家族：
    Actin family
  • 數(shù)據(jù)庫鏈接：

    HGNC: 143

    OMIM: 102540

    KEGG: hsa:70

    STRING: 9606.ENSP00000290378

    UniGene: Hs.118127