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COL9A3 Antibody

  • 货号：
    CSB-PA007102
  • 规格：
    ￥880
  • 其他：

产品详情

  • Uniprot No.：
    Q14050
  • 基因名：
  • 别名：
    COL9A3Collagen alpha-3(IX) chain antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Synthesized peptide derived from the Internal region of Human COL9A3.
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 产品提供形式：
    Liquid
  • 应用范围：
    IHC, IF, ELISA
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:100-1:300
    IF 1:200-1:1000
    ELISA 1:10000
  • 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. rs61734651 variant in COL9A3 was not significantly associated with a predisposition to lumbar disc degeneration. PMID: 29506578
    2. In an Iranian population, we observed a 5.8-fold increase in the odds of degenerative disc disease in males when the Trp3 allele was present PMID: 27798555
    3. A novel missense mutation was identified in a family diagnosed with multiple epiphyseal dysplasia. PMID: 25381065
    4. Here, we describe the first autosomal recessive Stickler family due to loss of function mutations (c.1176_1198del, p.Gln393Cysfs*25) of COL9A3 gene. These findings extend further the role of collagen genes family in the disease pathogenesis. PMID: 24273071
    5. We report an 81% mutation detection rate for pseudoachondroplasia, of which COMP+Col9A3 mutations were more prevalent (61%) than COMP mutations alone (30%). PMID: 21042783
    6. Patients with COL9A3 in-frame deletion of three amino acid residues (G181-P183 del) and missense mutation (D617E) showed moderate progressive bilateral sensorineural hearing impairment in all frequencies. PMID: 15917166
    7. a fragment of collagen type IX alpha chain is found in 34% of newborns with ureteropelvic junction obstruction, and in 100% of normals. PMID: 17701042

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  • 相关疾病：
    Multiple epiphyseal dysplasia 3 (EDM3); Intervertebral disc disease (IDD)
  • 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: 2219

    OMIM: 120270

    KEGG: hsa:1299

    STRING: 9606.ENSP00000341640

    UniGene: Hs.716639