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MTO1 Antibody

  • 中文名称：
    MTO1兔多克隆抗体
  • 货号：
    CSB-PA015191GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q9Y2Z2
  • 基因名：
    MTO1
  • 别名：
    MTO1 antibody; CGI-02 antibody; Protein MTO1 homolog antibody; mitochondrial antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human MTO1
  • 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 0.1% 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：
    Involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs.
  • 基因功能参考文献：
    1. Two novel variants (c.[253G > A];[938G > A]) in the MTO1 gene were identified in a child with cardiomyopathy with early-onset brain disease. PMID: 29440775
    2. MTO1 deficiency is lethal in some but not all cases, and a genotype-phenotype relation is suggested. Aside from lactic acidosis and cardiomyopathy, developmental delay and other phenotypic features affecting multiple organ systems are often present in these patients, suggesting a broader spectrum than hitherto reported. PMID: 29331171
    3. Defects in the mitochondrial tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARgamma-UCP2-AMPK axis. PMID: 29348686
    4. Whole-exome sequencing (WES) indicated a double homozygous mutation in the mitochondrial tRNA translation optimization 1 protein (MTO1) gene (p.R504C and p.V557M) in two of the patients and the homozygous mutation p.R504C in the other. PMID: 27256614
    5. Optic neuropathy, cardiomyopathy, and cognitive disability was found in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant. PMID: 26061759
    6. MTO1 mediates tRNA modification and controls mitochondrial translation rate in a highly tissue-specific manner associated with tissue-specific oxidative phosphorylation defects. PMID: 25552653
    7. Results show that post-transcriptional expression of GTPBP3, MTO1 and TRMU genes is down-regulated, leading to mt-tRNA hypomodification and contributing to mitochondrial dysfunction in MELAS cybrids. PMID: 25149473
    8. Nuclear-encoded mitochondrial MTO1 and MRPL41 are regulated in an opposite epigenetic mode based on estrogen receptor status in breast cancer. PMID: 24160266
    9. MTO1 mutations are commonly associated with a presentation of hypertrophic cardiomyopathy, lactic acidosis, and MRC deficiency. PMID: 23929671
    10. MTO1 mutations have roles in hypertrophic cardiomyopathy and lactic acidosis PMID: 22608499
    11. identification of full-length cDNA and elucidation of genomic organization of the human MTO1 homolog PMID: 12011058
    12. Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. PMID: 15542390
    13. proposed linkage in chromosome 8 and the association with TRMU and MTO1 genes were studied in A1555G deafness PMID: 18391568

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  • 相关疾病：
    Combined oxidative phosphorylation deficiency 10 (COXPD10)
  • 亚细胞定位：
    Mitochondrion.
  • 蛋白家族：
    MnmG family
  • 组织特异性：
    Ubiquitously expressed in various tissues, but with a markedly elevated expression in tissues of high metabolic rates including cochlea.
  • 数据库链接：

    HGNC: 19261

    OMIM: 614667

    KEGG: hsa:25821

    UniGene: Hs.347614