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  4. CRTAP Antibody

CRTAP Antibody

  • 中文名稱：
    CRTAP兔多克隆抗體
  • 貨號(hào)：
    CSB-PA005999GA01HU
  • 規(guī)格：
    ￥3,900
  • 其他：

產(chǎn)品詳情

  • Uniprot No.：
  • 基因名：
    CRTAP
  • 別名：
    CRTAP antibody; CASPCartilage-associated protein antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human,Mouse,Rat
  • 免疫原：
    Human CRTAP
  • 免疫原種屬：
    Homo sapiens (Human)
  • 抗體亞型：
    IgG
  • 純化方式：
    Antigen Affinity purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產(chǎn)品提供形式：
    Liquid
  • 應(yīng)用范圍：
    ELISA,WB,IHC
  • 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：
    Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues.
  • 基因功能參考文獻(xiàn)：
    1. To the best of our knowledge, our study is the first to exclude potential correlations between heterozygous variants in CRTAP and milder skeletal impairments in a large number of patients PMID: 27901313
    2. This study enhances our knowledge about the mutational pattern of the LEPRE1, CRTAP, and PPIB genes. LEPRE1 should be the first gene analyzed in mutation detection studies in patients with recessive OI. PMID: 26634552
    3. An additional function of the rough endoplasmic reticulum protein complex prolyl 3-hydroxylase 1.cartilage-associated protein.cyclophilin B: the CXXXC motif reveals disulfide isomerase activity in vitro. PMID: 24043621
    4. SNP rs7623768 and the haplotype G-C of rs4076086-rs7623768 in CRTAP were associated with femoral neck bone mineral density (p = 0.009 and p = 0.003, respectively). PMID: 19727905
    5. Importantly, human mutations in the CRTAP gene have been associated with recessive forms of OI. PMID: 20425614
    6. CRTAP deficiency results in higher bone mineral content of the bone matrix in osteogenesis imperfecta type VII. PMID: 19895918
    7. Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. PMID: 19862557
    8. CRTAP and P3H1 are mutually stabilized in the collagen prolyl 3-hydroxylation complex in endoplasmic reticulum. PMID: 19846465
    9. CRTAP mutations not described earlier were identified in 10 individuals who had a clinical diagnosis of lethal and severe osteogenesis imperfecta. PMID: 19550437
    10. complexes with prolyl 3-hydroxylase 1 (P3H1) to decrease prolyl 3 hydroxylation; dysregulation of prolyl 3 hydroxylation is a mechanism for connective tissue disease PMID: 17055431
    11. Screening of 78 subjects diagnosed with osteogenesis imperfecta type II or III, identified three probands with mutations in CRTAP and 16 with mutations in LEPRE1. PMID: 18566967
    12. Mutations in CRTAP and LEPRE1 are found in 3 patients with type II osteogenesis imperfecta. PMID: 18996919

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  • 相關(guān)疾病：
    Osteogenesis imperfecta 7 (OI7)
  • 亞細(xì)胞定位：
    Secreted, extracellular space, extracellular matrix.
  • 蛋白家族：
    Leprecan family
  • 組織特異性：
    Found in articular chondrocytes. Expressed in a variety of tissues.
  • 數(shù)據(jù)庫(kù)鏈接：

    HGNC: 2379

    OMIM: 605497

    KEGG: hsa:10491

    STRING: 9606.ENSP00000323696

    UniGene: Hs.517888



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