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ISPD Antibody

  • 货号：
    CSB-PA388827LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunohistochemistry of paraffin-embedded human liver cancer using CSB-PA388827LA01HU at dilution of 1:100
    • Immunohistochemistry of paraffin-embedded human testis tissue using CSB-PA388827LA01HU at dilution of 1:100
    • Immunofluorescent analysis of HepG2 cells using CSB-PA388827LA01HU at dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L)
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) ISPD Polyclonal antibody
  • Uniprot No.：
    A4D126
  • 基因名：
    ISPD
  • 别名：
    2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein antibody; Isoprenoid synthase domain-containing protein antibody; ispD antibody; ISPD_HUMAN antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Isoprenoid synthase domain-containing protein (1-264AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，ISPD Antibody (CSB-PA388827LA01HU)，的标记方式是Non-conjugated。对于ISPD Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA388827LB01HU ISPD Antibody, HRP conjugated ELISA
    FITC CSB-PA388827LC01HU ISPD Antibody, FITC conjugated
    Biotin CSB-PA388827LD01HU ISPD Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, IHC, IF
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:20-1:200
    IF 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：
    Cytidylyltransferase required for protein O-linked mannosylation. Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate. CDP-ribitol is a substrate of FKTN during the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Shows activity toward other pentose phosphate sugars and mediates formation of CDP-ribulose or CDP-ribose using CTP and ribulose-5-phosphate or ribose-5-phosphate, respectively. Not Involved in dolichol production.
  • 基因功能参考文献：
    1. ISPD and FKTN are essential for the incorporation of ribitol into alpha-dystroglycan. PMID: 27194101
    2. data suggest that the genetic heterogeneity of Limb Girdle Muscular Dystrophy with and without alpha-DG defects is greater than previously realized. PMID: 26404900
    3. ISPD gene homozygous deletion as a prenatal manifestation of Walker-Warburg syndrome has been found in 3 female fetuses of one family. PMID: 26087224
    4. Reduced levels of GYLTL1B and ISPD mRNA associated with increased patient mortality and are the likely cause of alphaDG hypoglycosylation in ccRCC. PMID: 26220087
    5. study describes a new homozygous missense mutation c.367G>A (p.Gly123Arg) in the ISPD gene in a family of Pakistani origin with 2 cousins from consanguineous parents affected with a congenital muscular dystrophy (CMD) /early limb-girdle muscular dystrophy intermediate phenotype and CMD respectively PMID: 25444434
    6. study report the involvement of the ISPD gene in milder dystroglycanopathy phenotypes ranging from congenital muscular dystrophy to limb-girdle muscular dystrophy and identified allelic ISPD variants in nine cases belonging to seven families PMID: 23288328
    7. we identified a novel homozygous c.161G>C/p.G54A variant in ISPD in patients with limb-girdle muscular dystrophy PMID: 23390185
    8. TMEM5 mutations were frequently associated with gonadal dysgenesis and neural tube defects, and ISPD mutations were frequently associated with brain vascular anomalies. PMID: 23217329
    9. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. PMID: 22522420
    10. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. PMID: 22522421
    11. Observational study of gene-disease association. (HuGE Navigator) PMID: 19913121
    12. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) PMID: 20628086
    13. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614

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  • 相关疾病：
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7); Muscular dystrophy-dystroglycanopathy limb-girdle C7 (MDDGC7)
  • 亚细胞定位：
    Cytoplasm, cytosol.
  • 蛋白家族：
    IspD/TarI cytidylyltransferase family, IspD subfamily
  • 组织特异性：
    Ubiquitously expressed, with high expression in brain.
  • 数据库链接：

    HGNC: 37276

    OMIM: 614631

    KEGG: hsa:729920

    STRING: 9606.ENSP00000385478

    UniGene: Hs.636502