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  4. Recombinant Human Hemicentin-1 (HMCN1), partial

Recombinant Human Hemicentin-1 (HMCN1), partial

In Stock
  • 中文名称：
    人HMCN1重组蛋白
  • 货号：
    CSB-EP857022HU
  • 规格：
    ￥2328
  • 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 90% as determined by SDS-PAGE.
  • 基因名：
    HMCN1
  • Uniprot No.：
    Q96RW7
  • 别名：
    Fibulin-6;FIBL-6
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 来源：
    E.coli
  • 分子量：
    19.2 kDa
  • 表达区域：
    4893-5029aa
  • 氨基酸序列
    LNATITDSPNSDTRIIRAKITNVPRSLGSAMRKIVSILNPIYWTTAKEIGEAVNGFTLTNAVFKRETQVEFATGEILQMSHIARGLDSDGSLLLDIVVSGYVLQLQSPAEVTVKDYTEDYIQTGPGQLYAYSTRLFT
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-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.
  • 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°C/-80°C. 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：
    3-7 business days
  • 注意事项：
    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.

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HMCN1 Proteins

靶点详情

  • 功能：
    Promotes cleavage furrow maturation during cytokinesis in preimplantation embryos. May play a role in the architecture of adhesive and flexible epithelial cell junctions. May play a role during myocardial remodeling by imparting an effect on cardiac fibroblast migration.
  • 基因功能参考文献：
    1. In the group that combined individuals affected by isolated cleft lip and palate, tooth agenesis, supernumerary teeth, molar incisor hypomineralization, or dental caries, we found an association with rs622260 but not with the rs10798049 marker. We determined that allele C of rs622260 was overrepresented in all individuals studied compared with a group of unrelated individuals who did not present any of these conditions. PMID: 29500156
    2. A null-variant in HMCN1 (c.4162delC), has been identified in a Tunisian Jewish family with early-onset age-related macular degeneration. PMID: 25986072
    3. HMCN1 mutation is associated with gastric and colorectal cancers. PMID: 24912920
    4. Fibulin-6, a fibroblast-released extracellular matrix protein, may play an important role during myocardial remodelling by imparting an effect on cardiac fibroblasts migration in close and complementary interplay with TGF-beta1 signalling PMID: 24951538
    5. The identified variants of HMCN1 are on conserved domains, particularly the two variants on calcium-binding epidermal growth factor domain. PMID: 25338956
    6. this is the first association study based on a candidate gene approach to confirm that a HMCN1 polymorphism (rs2891230) is associated with postpartum depression diagnosis. heterozygosity (GA) for this SNP was associated with an increased risk of PPD. PMID: 24604465
    7. Constructs show that EGF repeats 4 and 5 are required for hemicentin-dependent assembly and function of transgenic fibulin-1D in native locations. PMID: 22981695
    8. We mapped the ARMD1 gene. Identification of the genes involved in AMD will lead to a better understanding of this disease at the molecular level. PMID: 14570714
    9. None of our subjects (258 macular degeneration,AMD, cases, 72 non-AMD controls) had the Gln5345Arg variant in the HMCN1 gene. PMID: 16885922
    10. We were not able to demonstrate an association between the Hemicentin-1, hOgg1, and E-selectin SNPs and age-related macular degeneration development in the currently available cases and controls. PMID: 17057786
    11. The CFH gene and Hemicentin-1 genes do not appear to be involved in a statistically significant fraction of dry AMD (age-related macular degeneration) cases in the Japanese population. PMID: 17157600
    12. Data shows that low-frequency variants encoding possible functional amino acid polymorphisms in the HMCN1 gene may not contribute substantially to disease, but HMCN1 mutations may still confer disease susceptibility in a small subset of patients. PMID: 17216616
    13. hemicentin-1 gene appears to play a role in both age-related macular degeneration and renal pathophysiology PMID: 17591627
    14. down-regulated in salivary gland epithelial cell from Sjogren's syndrome patients following in vitro treatment with anti-Ro/SSA auto-antibodies; associated with increase in anoikis cell death PMID: 19190085
    15. Dysregulation of fibulin expression by anti-Ro/SSA antibodies may contribute to disorganization of the extracellular environment and thus cause injury to the salivary gland architecture and functionality observed in Sjogren syndrome PMID: 19229767
    16. Observational study of genotype prevalence, gene-disease association, and genetic testing. (HuGE Navigator) PMID: 15467524

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  • 相关疾病：
    Macular degeneration, age-related, 1 (ARMD1)
  • 亚细胞定位：
    Secreted, extracellular space, extracellular matrix, basement membrane. Cytoplasm. Cell junction. Cleavage furrow.
  • 组织特异性：
    Isoform 1 and isoform 2 are expressed in skin fibroblasts and retinal pigment epithelium (RPE) cells.
  • 数据库链接：

    HGNC: 19194

    OMIM: 603075

    KEGG: hsa:83872

    STRING: 9606.ENSP00000271588

    UniGene: Hs.58877

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