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TTC7A Antibody

  • 货号：
    CSB-PA025242GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q9ULT0
  • 基因名：
    TTC7A
  • 别名：
    TTC7A antibody; KIAA1140 antibody; TTC7Tetratricopeptide repeat protein 7A antibody; TPR repeat protein 7A antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human TTC7A
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • 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：
    Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. In the complex, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions.
  • 基因功能参考文献：
    1. TTC7A deficiency identified in a patient with overlapping features of tricho-hepato-enteric syndrome and multiple intestinal atresia with combined immune deficiency syndrome. PMID: 29174094
    2. Studies indicate that mutations in the tetratricopeptide repeat domain 7A (TTC7A) gene cause a severe form of very early onset inflammatory bowel disease PMID: 27418642
    3. The results further demonstrate that the skin consequences of TTC7A deficiency in mice and humans are consistent with a role of TTC7A in the balance of keratinocyte maturation, proliferation and cell death processes. PMID: 27059536
    4. identified a perfectly segregating homozygous missense mutation in TTC7A in a consanguinous Turkish pedigree causing combined immunodeficiency with mild structural intestinal defects PMID: 25745186
    5. Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency PMID: 25174867
    6. Identify loss of function mutations in TTC7A in 5 infants with very early onset inflammatory bowel disease. PMID: 24417819
    7. TTC7A deficiency results in increased Rho kinase activity, which disrupts polarity, growth, and differentiation of intestinal epithelial cells in multiple intestinal atresia. PMID: 24292712
    8. These data strongly suggest that TTC7A gene defects cause combined immunodeficiency with multiple intestinal atresias. PMID: 23830146
    9. Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. PMID: 23423984

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  • 相关疾病：
    Gastrointestinal defects and immunodeficiency syndrome (GIDID)
  • 亚细胞定位：
    Cytoplasm. Cell membrane.
  • 组织特异性：
    Expressed in epithelial cells of the intestine, thymus, and pancreas (at protein level).
  • 数据库链接：

    HGNC: 19750

    OMIM: 243150

    KEGG: hsa:57217

    STRING: 9606.ENSP00000316699

    UniGene: Hs.370603