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COL9A1 Antibody

  • 货号：
    CSB-PA005757ESR1HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) COL9A1 Polyclonal antibody
  • Uniprot No.：
    P20849
  • 基因名：
  • 别名：
    COL9A1Collagen alpha-1(IX) chain antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Collagen alpha-1(IX) chain protein (20-270AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    Structural component of hyaline cartilage and vitreous of the eye.
  • 基因功能参考文献：
    1. the COL9A1 rs35470562 variant may contribute to congenital talipes equinovarus susceptibility in the Chinese population examined. PMID: 27819742
    2. We observed a significant association between rs6910140 of COL9A1 and KBD, suggesting a role of COL9A1 in the development of KBD. PMID: 25774918
    3. The study demonstrated that hypermethylation is associated with down-regulation of COL9A1 expression in osteoarthritic (OA) cartilage and highlights the pivotal role of epigenetics in OA. PMID: 25048791
    4. The NC2 domain of type IX collagen determines the chain composition but also the chain register of the triple helix. PMID: 23132862
    5. Type IX collagen interacts with fibronectin providing an important molecular bridge in articular cartilage PMID: 21768108
    6. A second, novel mutation was identified in COL9A1, causing autosomal recessive Stickler syndrome together with the previously described nucleotide change in two separate families. PMID: 21421862
    7. COL9A1 protein is highly expressed in patients with idiopathic congenital talipes equinovarus (ICTEV) and rs1135056, which is located in the coding region of COL9A1 gene, may be associated with the pathogenesis of ICTEV. PMID: 21672422
    8. NC2 domain of collagen IX provides chain selection and heterotrimerization PMID: 20507993
    9. This study extends the range of gene-mutations that can cause multiple epiphyseal dysplasia-related myopathy. PMID: 20358595
    10. Data show that the proximal-promoter region of the human COL9A1 gene can drive expression of a reporter gene in chondrocytic RCS cells, but not in nonchondrocytic cell lines. PMID: 12399468
    11. the amino-terminal NC4 domain of human collagen IX interacts with glycosaminoglycans and cartilage oligomeric matrix protein PMID: 15047691
    12. COMP, type IX collagen and MATN3 play important roles in matrix assembly PMID: 15694129
    13. A search of the microRNA database revealed a highly conserved target sequence for miR-9 immediately preceding the overlapping polyadenylation signals in the novel 3' UTR of COL9A1, suggesting its role in posttranscriptional regulation of COL9A1. PMID: 16718610
    14. COL9A1 is the fourth identified gene that can cause Stickler syndrome. PMID: 16909383
    15. analysis of the crystal structure of the N-terminal NC4 domain of collagen IX PMID: 17553797
    16. the matrilin-3 A-domain appears to bind exclusively to the COL3 domain of type IX collagen and this binding is abolished in the presence of a disease causing mutation in type IX collagen PMID: 17881354
    17. mutation causes multiple epiphyseal dysplasia; genetic heterogeneity PMID: 11565064

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  • 相关疾病：
    Multiple epiphyseal dysplasia 6 (EDM6); Stickler syndrome 4 (STL4)
  • 亚细胞定位：
    Secreted, extracellular space, extracellular matrix.
  • 蛋白家族：
    Fibril-associated collagens with interrupted helices (FACIT) family
  • 数据库链接：

    HGNC: 2217

    OMIM: 120210

    KEGG: hsa:1297

    STRING: 9606.ENSP00000349790

    UniGene: Hs.590892