EFTUD2 Antibody
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中文名稱：EFTUD2兔多克隆抗體
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貨號：CSB-PA617995ESR2HU
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規格：￥440
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圖片：
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Western blot
All lanes: 116 kDa
U5 small nuclear ribonucleoprotein component antibody at 3μg/ml
Lane 1: Hela whole cell lysate
Lane 2: 293T whole cell lysate
Lane 3: NIH/3T3 whole cell lysate
Secondary
Goat polyclonal to rabbit IgG at 1/10000 dilution
Predicted band size: 47, 44, 37 kDa
Observed band size: 109 kDa
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其他：
產品詳情
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產品名稱：Rabbit anti-Homo sapiens (Human) EFTUD2 Polyclonal antibody
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Uniprot No.：
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基因名：EFTUD2
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別名：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
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宿主：Rabbit
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反應種屬：Human
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免疫原：Recombinant Human 116 kDa U5 small nuclear ribonucleoprotein component protein (1-205AA)
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免疫原種屬：Homo sapiens (Human)
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標記方式：Non-conjugated
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克隆類型：Polyclonal
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抗體亞型：IgG
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純化方式：Antigen Affinity Purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
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產品提供形式：Liquid
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應用范圍：ELISA, WB
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推薦稀釋比：
Application Recommended Dilution WB 1:500-1:5000 -
Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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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.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產品評價
相關產品
靶點詳情
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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.
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基因功能參考文獻：
- 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
- 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
- An update on mandibulofacial dysostosis with microcephaly and EFTUD2 mutations has been presented. (Review) PMID: 26507355
- Novel heterozygous mutations in EFTUD2, detected by exome sequencing, in mandibulofacial dysostosis with Microcephaly syndrome. PMID: 25735261
- 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
- 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
- A de nove deletion mutation at 17q21.31, encompassing the EFTUD2 gene, is associated with congenital mandibulofacial dysostosis with microcephaly. PMID: 24266672
- Three different mutations in EFTUD2 gene were found in patients with mandibulofacial dysostosis type Guion-Almeida syndrome PMID: 25387991
- Study describes loss-of-function mutations in EFTUD2 gene in patients with different clinical manifestations of Mandibulofacial dysostosis, Guion-Almeida type syndrome. PMID: 24470203
- 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
- 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
- EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. PMID: 23188108
- Validation studies of eight additional individuals with MFDM demonstrated causative EFTUD2 mutations in all affected individuals tested. PMID: 22305528
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相關疾病：Mandibulofacial dysostosis with microcephaly (MFDM)
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亞細胞定位：Nucleus.
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蛋白家族：TRAFAC class translation factor GTPase superfamily, Classic translation factor GTPase family, EF-G/EF-2 subfamily
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數據庫鏈接：
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