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COL9A2 Antibody

  • 货号：
    CSB-PA617900OA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Western Blot
      Positive WB detected in: THP-1 whole cell lysate, Rat brain tissue
      All lanes: COL9A2 antibody at 1:2000
      Secondary
      Goat polyclonal to rabbit IgG at 1/50000 dilution
      Predicted band size: 66 kDa
      Observed band size: 66 kDa
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) COL9A2 Polyclonal antibody
  • Uniprot No.：
    Q14055
  • 基因名：
  • 别名：
    CO9A2_HUMAN antibody; COL9A2 antibody; Collagen alpha-2(IX) chain antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human, Rat
  • 免疫原：
    Peptide sequence from Human Collagen alpha-2(IX) chain protein (594-611AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，COL9A2 Antibody (CSB-PA617900OA01HU)，的标记方式是Non-conjugated。对于COL9A2 Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA617900OB01HU COL9A2 Antibody, HRP conjugated ELISA
    FITC CSB-PA617900OC01HU COL9A2 Antibody, FITC conjugated
    Biotin CSB-PA617900OD01HU COL9A2 Antibody, Biotin conjugated ELISA
  • 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：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, WB
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:1000-1:5000
  • 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. rs12077871, rs12722877, and rs7533552 variants in COL9A2 were not significantly associated with a predisposition to lumbar disc degeneration. PMID: 29506578
    2. Study provides evidence that the COL9A2 Gln326Arg polymorphism contributes to the development of intervertebral disc disease in the Chinese population. PMID: 28002589
    3. Meta-analysis. Our results suggest that the COL9A2 rs12077871, rs12722877, and rs7533552 polymorphisms may not be associated with lumbar disc disease. PMID: 24983932
    4. Two novel mutations, c.143G>C in exon 2 and c.884G>A in exon 17 of the COL9A2 gene, may contribute to the development of pathological myopia. PMID: 24711017
    5. The allelic variants in the collagen IX genes - COL9A2 and COL9A3 have been identified as genetic risk factors for intervertebral disc disease--{review} PMID: 24636772
    6. Studies indicate that two SNPs that introduce tryptophan polymorphisms in COL9A2 and COL9A3 are independently linked to an increased risk of lumbar disc disease. PMID: 21311409
    7. Data indicate that no causal SNPs in COL9A2 were significantly associated with LSS, but Haplotype Analysis showed that the "GCAGCG" haplotype (HAP2) was overrepresented in LSS patients. PMID: 21228751
    8. loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome PMID: 21671392
    9. Data show that the associating G allele in COL9A2 changes a glutamine to arginine or to tryptophan and may predispose to both hip osteoarthritis and lumbar disc degeneration, making it a candidate for degenerative connective tissue diseases. PMID: 21159828
    10. mutations leading to skipping of exon 3 within the COL3 domain of the alpha2-chain of collagen type IX may be relatively common in patients with a special subtype of multiple epiphyseal dysplasia PMID: 12244547
    11. Both Trp2 and Trp3 allelic products are incorporated into cross-linked fibrillar network of developing human cartilage apparently normally. Any pathological consequences are likely to be long-term and indirect rather than from overt misassembly of matrix. PMID: 12782139
    12. The collagen IX is cartilage specific, and expressed in hypertrophic chondrocytes and bone. PMID: 15625128
    13. A population study using magnetic resonance imaging to define degenerative disc disease demonstrates that the TRP2 allele (Gln326Trp)of COL9A2 is a significant risk factor for development and severity of degeneration. PMID: 16371896
    14. A Japanese family with an autosomal dominant multiple epiphyseal dysplasia (MED EDM2) was studied; genomic analysis for COL9A2 identified an Ex3-1A>G heterozygous mutation, which has been proved to result in skipping of exon 3. PMID: 16440132
    15. Association of a COL9A2 specific haplotype with lumbar disc disease in the Japanese population. PMID: 17024315
    16. Homozygosity for the Arg allele of Col9A2 seems to be more frequent in the patient group with early recurrence although the differences in the allele frequencies were statistically not significant. PMID: 18080148
    17. COL9A2 polymorphisms were associated with intervertebral disc mechanics, relating genetic variations and debilitating mechanical alterations that may ultimately result in intervertebral disc degeneration. PMID: 18246003

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  • 相关疾病：
    Multiple epiphyseal dysplasia 2 (EDM2); Intervertebral disc disease (IDD); Stickler syndrome 5 (STL5)
  • 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: 2218

    OMIM: 120260

    KEGG: hsa:1298

    STRING: 9606.ENSP00000361834

    UniGene: Hs.418012