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EFTUD2 Antibody

  • 货号：
    CSB-PA004127
  • 规格：
    ￥880
  • 图片：
    • Western Blot analysis of HuvEc cells using Snrp116 Polyclonal Antibody
  • 其他：

产品详情

  • Uniprot No.：
    Q15029
  • 基因名：
    EFTUD2
  • 别名：
    116 kDa antibody; 116 kDa U5 small nuclear ribonucleoprotein component antibody; EFTUD2 antibody; Elongation factor Tu GTP binding domain containing 2 antibody; Elongation factor Tu GTP-binding domain-containing protein 2 antibody; hSNU114 antibody; MFDGA antibody; MFDM antibody; SNRNP116 antibody; Snrp116 antibody; Snu114 antibody; SNU114 homolog antibody; U5 116KD antibody; U5 small nuclear ribonucleoprotein component antibody; U5 snRNP specific protein, 116 kD antibody; U5 snRNP specific protein, 116 kDa antibody; U5 snRNP-specific protein antibody; U5-116 kDa antibody; U5-116KD antibody; U5S1_HUMAN antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse
  • 免疫原：
    Synthesized peptide derived from the Internal region of Human Snrp116.
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 产品提供形式：
    Liquid
  • 应用范围：
    WB, IHC, ELISA
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:2000
    IHC 1:100-1:300
    ELISA 1:40000
  • 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：
    Required for pre-mRNA splicing as component of the spliceosome, including pre-catalytic, catalytic and post-catalytic spliceosomal complexes. Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome.
  • 基因功能参考文献：
    1. we report two individuals of Asian ancestry with Mandibulofacial dysostosis type Guion-Almeida (MFDGA), each harboring a novel, pathogenic splice site variant in EFTUD2 PMID: 29381487
    2. We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS. PMID: 25790162
    3. An update on mandibulofacial dysostosis with microcephaly and EFTUD2 mutations has been presented. (Review) PMID: 26507355
    4. Novel heterozygous mutations in EFTUD2, detected by exome sequencing, in mandibulofacial dysostosis with Microcephaly syndrome. PMID: 25735261
    5. Results show that SNW1 directly associates with EFTUD2 and SNRNP200 and that disruption of SNW1 association with these proteins promotes the apoptosis of breast cancer cells. PMID: 25450007
    6. These data demonstrate that EFTUD2 restricts Hepatitis C Virus infection mainly through an RIG-I/MDA5-mediated, JAK-STAT-independent pathway, thereby revealing the participation of EFTUD2 as a novel innate immune regulator. PMID: 25878102
    7. A de nove deletion mutation at 17q21.31, encompassing the EFTUD2 gene, is associated with congenital mandibulofacial dysostosis with microcephaly. PMID: 24266672
    8. Three different mutations in EFTUD2 gene were found in patients with mandibulofacial dysostosis type Guion-Almeida syndrome PMID: 25387991
    9. Study describes loss-of-function mutations in EFTUD2 gene in patients with different clinical manifestations of Mandibulofacial dysostosis, Guion-Almeida type syndrome. PMID: 24470203
    10. the phenotype in patients with EFTUD2 mutations is much broader than previously anticipated; in addition to AFD type Guion-Almeida and syndromic esophageal atresia, oto-facial syndrome also belongs to the EFTUD2 mutation spectrum PMID: 23879989
    11. Novel mutations in EFTUD2 were discovered in 3 patients. These mutations expand the clinical features in patients with EFTUD2 mutations and demonstrate an overlap with oculo-auriculo-vertebral spectrum. PMID: 23239648
    12. EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. PMID: 23188108
    13. Validation studies of eight additional individuals with MFDM demonstrated causative EFTUD2 mutations in all affected individuals tested. PMID: 22305528

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  • 相关疾病：
    Mandibulofacial dysostosis with microcephaly (MFDM)
  • 亚细胞定位：
    Nucleus.
  • 蛋白家族：
    TRAFAC class translation factor GTPase superfamily, Classic translation factor GTPase family, EF-G/EF-2 subfamily
  • 数据库链接：

    HGNC: 30858

    OMIM: 603892

    KEGG: hsa:9343

    STRING: 9606.ENSP00000392094

    UniGene: Hs.151787