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  4. Recombinant Human Growth/differentiation factor 6 (GDF6)

Recombinant Human Growth/differentiation factor 6 (GDF6)

In Stock
  • 货号：
    CSB-AP005971HU
  • 规格：
    ￥852
  • 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：
    > 95 % as determined by SDS-PAGE
  • 内毒素：
    Less than 0.1 EU/ug as determined by LAL method.
  • 生物活性：
    Fully biologically active when compared to standard. The ED50 as determined by inducing alkaline phosphatase production of murine ATDC5 cells is less than 2.0 μg/ml, corresponding to a specific activity of > 500 IU/mg.
  • 基因名：
  • Uniprot No.：
  • 别名：
    GDF6; BMP13; GDF16Growth/differentiation factor 6; GDF-6; Bone morphogenetic protein 13; BMP-13; Growth/differentiation factor 16
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 来源：
    E.Coli
  • 分子量：
    13.6 kDa
  • 表达区域：
    336-455aa
  • 氨基酸序列
    TAFASRHGKR HGKKSRLRCS KKPLHVNFKE LGWDDWIIAP LEYEAYHCEG VCDFPLRSHL EPTNHAIIQT LMNSMDPGST PPSCCVPTKL TPISILYIDA GNNVVYKQYE DMVVESCGCR
  • 蛋白标签：
    Tag-Free
  • 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：
    Lyophilized from a 0.2 um filtered concentrated solution in 30 % Acetonitrile and 0.1 % TFA.
  • 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：
    5-10 business days
  • Datasheet & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral positional information in the retina and controls the formation of the retinotectal map. Required for normal formation of bones and joints in the limbs, skull, digits and axial skeleton. Plays a key role in establishing boundaries between skeletal elements during development. Regulation of GDF6 expression seems to be a mechanism for evolving species-specific changes in skeletal structures. Seems to positively regulate differentiation of chondrogenic tissue through the growth factor receptors subunits BMPR1A, BMPR1B, BMPR2 and ACVR2A, leading to the activation of SMAD1-SMAD5-SMAD8 complex. The regulation of chondrogenic differentiation is inhibited by NOG. Also involved in the induction of adipogenesis from mesenchymal stem cells. This mechanism acts through the growth factor receptors subunits BMPR1A, BMPR2 and ACVR2A and the activation of SMAD1-SMAD5-SMAD8 complex and MAPK14/p38.
  • 基因功能参考文献：
    1. findings indicate that increased BMP signaling owing to a GDF6 gain-of-function mutation is responsible for loss of joint formation and profound functional impairment in patients with Multiple Synostoses Syndrome 4. PMID: 26643732
    2. As fetal age increased, the expression of growth differentiation factor 6 was decreased correspondingly with the progress of ossification in vertebral bodies and restricted to cartilaginous regions. PMID: 26184900
    3. BMP13 has a role in enhancing extracellular matrix accumulation and inducing cell migration in certain intervertebral disc cells PMID: 26134557
    4. GDF6 is overexpressed in Leri's pleonosteosis. PMID: 24442880
    5. There was a possible weak association between the rs6982567 near GDF6 and polypoidal choroidal vasculopathy in this replication study with an independent Han Chinese cohort. PMID: 25416513
    6. Deficiency of gdf6 results in photoreceptor degeneration, so demonstrating a connection between Gdf6 signaling and photoreceptor survival. PMID: 23307924
    7. a critical role of HTRA1 in the regulation of angiogenesis via TGF-beta signaling and identified GDF6 as a novel disease gene for AMD. PMID: 22049084
    8. studies show that even though tenogenic (BMP 12 and BMP 13) and osteogenic (BMP2) BMPs bind the same receptors with high affinity they signal much differently and result in differential activation of osteogenic and tenogenic markers PMID: 21702718
    9. induces ligamentogenic differentiation in mesenchymal progenitors PMID: 20334610
    10. Observational study of gene-disease association. (HuGE Navigator) PMID: 20734064
    11. These data suggest a potential role for BMP-13 (the human homologue to GDF-6) in tendon matrix modeling and/or remodeling. PMID: 19492402
    12. Observational study of gene-disease association. (HuGE Navigator) PMID: 20494911
    13. The spectrum of disorders generated by morpholino inhibition and the more severe defects (microphthalmia and anophthalmia) observed at higher doses illustrate the key role of GDF6 in ocular development. PMID: 17236135
    14. Mutation screening of a large and clinically diverse Klippel-Feil syndrome (KFS) cohort has identified GDF6 missense mutations in both familial and sporadic KFS patients. PMID: 18425797
    15. These data establish the important role of growth differentiation factor 6 in ocular and vertebral development. PMID: 19129173
    16. BMP-13 inhibited osteogenic differentiation of bone marrow multipotent mesenchymal stromal cells, implying that functional mutations or deficiency of BMP-13 may allow excess bone formation PMID: 19240811
    17. Observational study of gene-disease association. (HuGE Navigator) PMID: 20057906
    18. Observational study of gene-disease association. (HuGE Navigator) PMID: 18716610

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  • 相关疾病：
    Klippel-Feil syndrome 1, autosomal dominant (KFS1); Microphthalmia, isolated, 4 (MCOP4); Leber congenital amaurosis 17 (LCA17)
  • 亚细胞定位：
    Secreted.
  • 蛋白家族：
    TGF-beta family
  • 数据库链接：

    HGNC: 4221

    OMIM: 118100

    KEGG: hsa:392255

    STRING: 9606.ENSP00000287020

    UniGene: Hs.492277