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COL11A2 Antibody

  • 中文名称：
    COL11A2兔多克隆抗体
  • 货号：
    CSB-PA634265
  • 规格：
    ￥2024
  • 图片：
    • Immunohistochemistry analysis of paraffin-embedded human brain tissue, using Collagen XI α2 antibody.
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) COL11A2 Polyclonal antibody
  • Uniprot No.：
    P13942
  • 基因名：
    COL11A2
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse
  • 免疫原：
    Synthesized peptide derived from internal of Human Collagen XI α2.
  • 免疫原种属：
    Homo sapiens (Human)
  • 克隆类型：
    Polyclonal
  • 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.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,IHC
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:50-1:100
  • 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：
    May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.
  • 基因功能参考文献：
    1. that the COL11A2 gene, which has previously been associated with familial osteoarthritis, may play a role in pain sensitization after the development of osteoarthritis PMID: 28741447
    2. Up to now, merely 7 loci have been linked to mid-frequency hearing loss. Only four genetic mid-frequency deafness genes, namely, DFNA10 (EYA4), DFNA8/12 (TECTA), DFNA13 (COL11A2), DFNA44 (CCDC50), have been reported to date. [review] PMID: 27142990
    3. Data indicate that Ala37Ser is the missense mutation located in the NC4 domain of the collagen type XI COL11A2 protein. PMID: 25633957
    4. A novel mutation in COL11A2 was found in a Japanese family with non-ocular Stickler syndrome. PMID: 25780254
    5. Hearing impairment in non-ocular Stickler syndrome is characterized by non-progressive hearing loss, present since childhood, and mostly mild to moderate in severity. Heterozygote mutations in COL11A2 were present in two pedigrees. PMID: 22796475
    6. These findings thus demonstrate that fibrochondrogenesis can result from either recessively or dominantly inherited mutations in COL11A2 PMID: 22246659
    7. The findings of a significant association between lip and/or palate clefts and two markers in the WNT3 and COL11A2 genes were the most consistent and were observed in all groups analysed and stratified. PMID: 22112025
    8. four loci showed the strongest associations with RA (P<0.005): ZNF391, OR2H1, C6orf26-RDBP and HLA-DPB1-COL11A2. PMID: 21293383
    9. A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient. PMID: 21204229
    10. individuals carrying the C allele at the COL11A2 SNP site, rs2076311, had a lower risk of Kawasaki disease and had a lower probability of developing coronary artery lesions PMID: 20618517
    11. differential regulation by EWS/ERG sarcoma fusion protein and wild-type ERG PMID: 12554743
    12. Mutation in the COL11A2 gene was found in all affected individuals, which lends molecular support to the clinical notion that autosomal recessive Weissenbacher-Zweymuller syndrome (WZS) and otospondylomegaepiphyseal dysplasia (OSMED)are a single entity. PMID: 15558753
    13. mutation type and location are critical determinants in defining the phenotype of COL11A2 associated diseases PMID: 16033917
    14. COL11A2 transcription is regulated by Sp1 proteins and by binding to its proximal promoter PMID: 16734381
    15. diagnosis ofOtospondylomegaepiphyseal dysplasia was diagnosed by identifying a mutation in the COL11A2 gene that encodes the pre-pro-alpha2(XI) chain of type XI collagen that is involved in type II collagen fibrillogenesis. PMID: 18381781

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  • 相关疾病：
    Otospondylomegaepiphyseal dysplasia, autosomal dominant (OSMEDA); Otospondylomegaepiphyseal dysplasia, autosomal recessive (OSMEDB); Deafness, autosomal dominant, 13 (DFNA13); Deafness, autosomal recessive, 53 (DFNB53); Fibrochondrogenesis 2 (FBCG2)
  • 亚细胞定位：
    Secreted, extracellular space, extracellular matrix.
  • 蛋白家族：
    Fibrillar collagen family
  • 数据库链接：

    HGNC: 2187

    OMIM: 120290

    KEGG: hsa:1302

    UniGene: Hs.390171