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  4. ISPD Antibody, FITC conjugated

ISPD Antibody, FITC conjugated

  • 中文名稱：
    ISPD兔多克隆抗體, FITC偶聯(lián)
  • 貨號：
    CSB-PA388827LC01HU
  • 規(guī)格：
    ￥880
  • 其他：

產(chǎn)品詳情

  • 產(chǎn)品名稱：
    Rabbit anti-Homo sapiens (Human) ISPD Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    ISPD
  • 別名：
    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
  • 反應(yīng)種屬：
    Human
  • 免疫原：
    Recombinant Human Isoprenoid synthase domain-containing protein (1-264AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標(biāo)記方式：
    FITC
  • 克隆類型：
    Polyclonal
  • 抗體亞型：
    IgG
  • 純化方式：
    >95%, Protein G purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 產(chǎn)品提供形式：
    Liquid
  • 儲存條件：
    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)品評價

靶點詳情

  • 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.
  • 基因功能參考文獻(xiàn)：
    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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  • 相關(guān)疾病：
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7); Muscular dystrophy-dystroglycanopathy limb-girdle C7 (MDDGC7)
  • 亞細(xì)胞定位：
    Cytoplasm, cytosol.
  • 蛋白家族：
    IspD/TarI cytidylyltransferase family, IspD subfamily
  • 組織特異性：
    Ubiquitously expressed, with high expression in brain.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 37276

    OMIM: 614631

    KEGG: hsa:729920

    STRING: 9606.ENSP00000385478

    UniGene: Hs.636502



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