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CRELD1 Antibody

  • 货号：
    CSB-PA256217
  • 规格：
    ￥1100
  • 图片：
    • The image on the left is immunohistochemistry of paraffin-embedded Human thyroid cancer tissue using CSB-PA256217(CRELD1 Antibody) at dilution 1/40, on the right is treated with synthetic peptide. (Original magnification: ×200)
    • The image on the left is immunohistochemistry of paraffin-embedded Human brain tissue using CSB-PA256217(CRELD1 Antibody) at dilution 1/40, on the right is treated with synthetic peptide. (Original magnification: ×200)
  • 其他：

产品详情

  • Uniprot No.：
    Q96HD1
  • 基因名：
    CRELD1
  • 别名：
    CRELD1; CIRRIN; UNQ188/PRO214; Protein disulfide isomerase CRELD1; Cysteine-rich with EGF-like domain protein 1
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Synthetic peptide of Human CRELD1
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen affinity purification
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,IHC
  • 推荐稀释比：
    Application Recommended Dilution
    ELISA 1:2000-1:5000
    IHC 1:50-1:200
  • 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：
    Protein disulfide isomerase. Promotes the localization of acetylcholine receptors (AChRs) to the plasma membrane.
  • 基因功能参考文献：
    1. The CRELD1 gene is likely to have a major role in causation of AVSD phenotype in selected DS patients. PMID: 29054759
    2. Germline mutations in the NKX2-5, GATA4, and CRELD1 genes do not appear to be associated with CHD in Mexican DS patients. PMID: 25524324
    3. Mutation of the CRELD1 gene increased the risk for atrioventricular septal defect. PMID: 24927998
    4. we identified two CRELD1 haplotypes associated with AVSD phenotype among DS and euploid individuals. PMID: 22987595
    5. study indicates that deleterious CRELD1 missense mutations are specifically associated with AVSD and are not correlated with other aspects of the heterotaxy phenotype PMID: 22740159
    6. SNP c.985 C>T of CRELD1 is involved in causing congenital heart disease in patients of Mysore, South India. PMID: 21413875
    7. CRELD1 is likely to be an AVSD-susceptibility gene and CRELD1 mutations may increase the risk of developing a heart defect rather than being a direct causative mutation PMID: 21080147
    8. CRELD1 could partly change the localization of RTN3 from the endoplasmic reticulum to the plasma membrane and modulate the apoptotic activity of RTN3 through binding with it. PMID: 19521671
    9. Missense mutations in this protein are associated with cardiac atrioventricular septal defects. PMID: 12632326
    10. Mutations in CRELD1,are infrequently found in patients with congenital cardiac septal defects PMID: 18076106

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  • 相关疾病：
    Atrioventricular septal defect 2 (AVSD2)
  • 亚细胞定位：
    Membrane; Multi-pass membrane protein.
  • 蛋白家族：
    CRELD family
  • 组织特异性：
    Highly expressed in fetal lung, liver, kidney, adult heart, brain and skeletal muscle. Weakly expressed in placenta, fetal brain, and adult lung, liver, kidney and pancreas.
  • 数据库链接：

    HGNC: 14630

    OMIM: 606217

    KEGG: hsa:78987

    UniGene: Hs.9383