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  4. Recombinant Human Filamin-C (FLNC), partial

Recombinant Human Filamin-C (FLNC), partial

  • 中文名称：
    Recombinant Human Filamin-C (FLNC), partial
  • 货号：
    CSB-EP613498HU
  • 规格：
    ￥1536
  • 图片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

产品详情

  • 纯度：
    Greater than 95% as determined by SDS-PAGE.
  • 生物活性：
    Not Test
  • 基因名：
    FLNC
  • Uniprot No.：
    Q14315
  • 别名：
    FLN-C;FLNc;ABP-280-like protein;ABP-L;Actin-binding-like protein;Filamin-2;Gamma-filamin
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 来源：
    E.coli
  • 分子量：
    37.3 kDa
  • 表达区域：
    1-265aa
  • 氨基酸序列
    MMNNSGYSDAGLGLGDETDEMPSTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVGKRLTDLQRDLSDGLRLIALLEVLSQKRMYRKFHPRPNFRQMKLENVSVALEFLEREHIKLVSIDSKAIVDGNLKLILGLIWTLILHYSISMPMWEDEDDEDARKQTPKQRLLGWIQNKVPQLPITNFNRDWQDGKALGALVDNCAPGLCPDWEAWDPNQPVENAREAMQQADDWLGVPQVIAPEEIVDPNVDEHSVMTYLSQFPKAKLKPG
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    C-terminal 6xHis-tagged
  • 产品提供形式：
    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.
  • 缓冲液：
    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, pH 8.0.
  • 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.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4℃ for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

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FLNC Proteins

靶点详情

  • 功能：
    Muscle-specific filamin, which plays a central role in muscle cells, probably by functioning as a large actin-cross-linking protein. May be involved in reorganizing the actin cytoskeleton in response to signaling events, and may also display structural functions at the Z lines in muscle cells. Critical for normal myogenesis and for maintaining the structural integrity of the muscle fibers.
  • 基因功能参考文献：
    1. we report a Chinese family suffering from filamin-C-related myofibrillar myopathy caused by a novel 15-bp deletion in exon 18 of the FLNC gene. PMID: 29866061
    2. Mutation in FLNC was identified as Restrictive Cardiomyopathy - causing mutation. PMID: 27339502
    3. a novel variant in FLNC was identified as pathogenic variant for familial Restrictive cardiomyopathy. PMID: 29212899
    4. The study confirms that truncating variants on myofibrillar myopathies- causing genes are frequently associated with dilated cardiomyopathies and also suggest that FLNC mutations could be considered as a common cause of dilated cardiomyopathy. PMID: 28436997
    5. Study found a novel splice-site mutation in FLNC gene (c.2389+1G>A) which co-segregated with all symptomatic individuals in the family with dilated cardiomyopathy (DCM). These results strongly suggest that the involvement of FLNC gene, due to haploinsufficiency, should be considered in familial cases with DCM, especially if accompanied with arrhythmia and increased incidence of sudden cardiac death. PMID: 29551499
    6. Filamin C promotes lymphatic invasion and lymphatic metastasis and increases cell motility by regulating Rac1/cdc42 activites in esophageal squamous cell carcinoma. PMID: 28031525
    7. Data show that the filamin C (FLNC) protein was significantly overexpressed with the development of hepatocellular carcinoma (HCC), which might play an important role in HCC invasion and metastasis. PMID: 27626164
    8. Missense variant in FLNC gene is associated with reading disability. PMID: 28866788
    9. suggest that the combination of the OBSCN p.Arg4444Trp variant and of the FLNC c.5161delG mutation, can cooperatively affect myofibril stability and increase the penetrance of muscular dystrophy in the French family PMID: 29073160
    10. This study therefore identifies both BAG3 reduction and autophagy promotion as potential therapies for FLNC(W2710X) myofibrillar myopathy, and identifies protein insufficiency due to sequestration, compounded by impaired autophagy, as the cause. PMID: 26969713
    11. Biallelic variants in FLNC can cause congenital dilated cardiomyopathy. PMID: 27601210
    12. Truncating mutations in FLNC caused an overlapping phenotype of dilated and left-dominant arrhythmogenic cardiomyopathies complicated by frequent premature sudden death PMID: 27908349
    13. a compelling evidence of the involvement of FLNC in the development of Hypertrophic Cardiomyopathy . Most of the FLNC variants were associated with mild forms ofHypertrophic Cardiomyopathy and a reduced penetrance PMID: 28356264
    14. FLNC is a disease gene for autosomal-dominant Restrictive Cardiomyopathy and broadens the phenotype spectrum of filaminopathies. PMID: 26666891
    15. The identification of Filamin C as a novel KCNE2 ligand not only enhances current understanding of ion channel function and regulation, but also provides valuable information about possible pathways likely to be involved in long-QT syndrome pathogenesis PMID: 26956495
    16. Findings indicate a functional role of filamin C in cancers. PMID: 25577646
    17. Mutations in the gene encoding the sarcomeric protein filamin C cause a new form of familial hypertrophic cardiomyopathy. PMID: 25351925
    18. Aciculin interacts with filamin C and Xin and is essential for myofibril assembly. PMID: 24963132
    19. alpha2C-adrenoreceptor interaction with filamin-2 PMID: 25110951
    20. Increased methylation levels of FLNC is associated with highly active Helicobacter pylori-related gastritis. PMID: 23292007
    21. these studies extend previous findings to show that functional rescue of alpha2C-ARs is mediated through Rap1-filamin signaling. Perturbation of this signaling pathway may lead to alterations in alpha2C-AR trafficking and physiological function. PMID: 23864608
    22. FLNC/filamin C mutations cause protein degradation in myofibrillar myopathy PMID: 23238331
    23. We conclude that filamin C is a dosage-sensitive gene and that FLNC haploinsufficiency can cause a specific type of myopathy in humans. PMID: 22131542
    24. filamin C ABD mutations cause a recognizable distal myopathy, most likely through increased actin affinity, similar to the pathological mechanism of filamin A and filamin B ABD mutations. PMID: 21620354
    25. We present a Chinese family with filaminopathy with progressive muscle weakness in all limbs with a deletion-insertion mutation in exon 18 of the filamin C PMID: 20417099
    26. Accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle myopathies. PMID: 12480088
    27. calpain 3 can cleave filamin C (FLNC); FLNC may be substrate for calpain 3, regulating protein-protein interactions with sarcoglycans PMID: 14506720
    28. gamma filamin has one molecule, with predominantly beta secondary-structure elements, per asymmetric unit PMID: 15159586
    29. results identify the muscle-specific isoform FLNc as a new physiological substrate for PKB PMID: 15461588
    30. a mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy PMID: 15929027
    31. These observations start to define the basis for PI3K regulation of filamin through LL5beta. PMID: 17174070
    32. The crystal structure of domain 23 of filamin C showed that the protein adopts the expected immunoglobulin (Ig)-like fold. A dimer is formed by domain 24; domain 23 has little interactions with itself or with domain 24. PMID: 17379241
    33. The mutant dimerization domain of filamin C is less stable and more susceptible to proteolysis. As a consequence, it does not dimerize properly and forms aggregates in vitro. PMID: 17412757
    34. Taken together, our data suggest that p73alpha is sequestered in the cytoplasm by filamin A, thereby inhibiting its transcriptional activity. PMID: 17825253
    35. filamin-C, a known component of striated muscle Z-lines, interacts with nebulette modules PMID: 17987659
    36. Results suggest that the novel p.Val930_Thr933del mutation in filamin C is the cause of MFM but also indicate that filamin C mutations are a comparatively rare cause of MFM. PMID: 19050726
    37. Data show that in myofibrillar myopathies filamin C exhibites significant alterations in their localization. PMID: 19151983
    38. A large number of variations were found in many of the genes (myozenin 1, gamma-filamin, kinectin-1) in patients with limb-girdle muscular dystrophies and controls. PMID: 19472918

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  • 相关疾病：
    Myopathy, myofibrillar, 5 (MFM5); Myopathy, distal, 4 (MPD4); Cardiomyopathy, familial hypertrophic 26 (CMH26); Cardiomyopathy, familial restrictive 5 (RCM5)
  • 亚细胞定位：
    Cytoplasm. Membrane; Peripheral membrane protein. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Note=A small amount localizes at membranes. In striated muscle cells, it predominantly localizes in myofibrillar Z lines, while a minor fraction localizes with subsarcolemme. Targeting to developing and mature Z lines is mediated by the intradomain insert.
  • 蛋白家族：
    Filamin family
  • 组织特异性：
    Highly expressed in striated muscles. Weakly expressed in thyroid, fetal brain, fetal lung, retina, spinal cord and bone marrow. Not expressed in testis, pancreas, adrenal gland, placenta, liver and kidney.
  • 数据库链接：

    HGNC: 3756

    OMIM: 102565

    KEGG: hsa:2318

    STRING: 9606.ENSP00000327145

    UniGene: Hs.58414

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