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  4. C19orf12 Antibody, HRP conjugated

C19orf12 Antibody, HRP conjugated

  • 中文名稱：
    C19orf12兔多克隆抗體, HRP偶聯
  • 貨號：
    CSB-PA003434LB01HU
  • 規格：
    ￥880
  • 其他：

產品詳情

  • 產品名稱：
    Rabbit anti-Homo sapiens (Human) C19orf12 Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    C19orf12
  • 別名：
    C19orf12; Protein C19orf12
  • 宿主：
    Rabbit
  • 反應種屬：
    Human
  • 免疫原：
    Recombinant Human Protein C19orf12 protein (65-104AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標記方式：
    HRP
  • 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
  • 產品提供形式：
    Liquid
  • 應用范圍：
    ELISA
  • Protocols：
  • 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.

產品評價

靶點詳情

  • 基因功能參考文獻：
    1. This study showed that C19orf19 genes account for disease of patients diagnosed with an Neurodegeneration with brain iron accumulation disorder. PMID: 29325618
    2. This study shown neurodegeneration associated with mutations in C19orf12 in the periventricular region. PMID: 28347614
    3. The C19orf12 p.Thr11Met mutation is frequent among adult Turkish patients with mitochondrial membrane protein associated neurodegeneration. PMID: 28347615
    4. Its mutations are not found in Iranian Parkinson's disease patients. PMID: 28365006
    5. Data indicate two novel homozygous mutations (one frameshift and one missense mutation) detected in CYP7B1 (SPG5A), while no disease-causing mutation was identified for PNPLA6 (SPG39) and C19orf12 (SPG43). PMID: 26714052
    6. Two Turkish sisters with Behr syndrome with homozygous C19ORF12 mutation PMID: 26187298
    7. In several families with neurodegeneration with brain iron accumulation, novel mutations were found in the C19orf12 gene. PMID: 25962551
    8. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. PMID: 23857908
    9. Subsequent testing detected compound heterozygous mutations in c19orf12 consistent with mitochondrial membrane protein-associated neurodegeneration PMID: 23494994
    10. Sequence analysis of C19orf12 revealed a novel mutation, p.Gly66del, in patients with neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. PMID: 22584950
    11. Mutations in the c19orf12 gene encoding a mitochondrial protein of unknown function were identified in patients suffering from Neurodegeneration with brain iron accumulation. PMID: 22691760
    12. This study identified 3 patients carrying novel mutations in the C19orf12 gene in patients with neurodegeneration with brain iron accumulation. PMID: 22704260
    13. orphan mitochondrial protein c19orf12 absence causes a distinct clinical subtype of neurodegeneration with brain iron accumulation PMID: 21981780

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  • 相關疾病：
    Neurodegeneration with brain iron accumulation 4 (NBIA4); Spastic paraplegia 43, autosomal recessive (SPG43)
  • 亞細胞定位：
    Mitochondrion. Mitochondrion membrane; Single-pass membrane protein. Endoplasmic reticulum. Cytoplasm, cytosol.
  • 數據庫鏈接：

    HGNC: 25443

    OMIM: 614297

    KEGG: hsa:83636

    STRING: 9606.ENSP00000376103

    UniGene: Hs.529094