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COL9A3 Antibody

  • 中文名稱:
    COL9A3兔多克隆抗體
  • 貨號(hào):
    CSB-PA007102
  • 規(guī)格:
    ¥1090
  • 其他:

產(chǎn)品詳情

  • Uniprot No.:
  • 基因名:
  • 別名:
    COL9A3Collagen alpha-3(IX) chain antibody
  • 宿主:
    Rabbit
  • 反應(yīng)種屬:
    Human
  • 免疫原:
    Synthesized peptide derived from the Internal region of Human COL9A3.
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標(biāo)記方式:
    Non-conjugated
  • 抗體亞型:
    IgG
  • 純化方式:
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 產(chǎn)品提供形式:
    Liquid
  • 應(yīng)用范圍:
    IHC, IF, ELISA
  • 推薦稀釋比:
    Application Recommended Dilution
    IHC 1:100-1:300
    IF 1:200-1:1000
    ELISA 1:10000
  • Protocols:
  • 儲(chǔ)存條件:
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期:
    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.
  • 用途:
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能:
    Structural component of hyaline cartilage and vitreous of the eye.
  • 基因功能參考文獻(xiàn):
    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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  • 相關(guān)疾病:
    Multiple epiphyseal dysplasia 3 (EDM3); Intervertebral disc disease (IDD)
  • 亞細(xì)胞定位:
    Secreted, extracellular space, extracellular matrix.
  • 蛋白家族:
    Fibril-associated collagens with interrupted helices (FACIT) family
  • 數(shù)據(jù)庫(kù)鏈接:

    HGNC: 2219

    OMIM: 120270

    KEGG: hsa:1299

    STRING: 9606.ENSP00000341640

    UniGene: Hs.716639



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