EFTUD2 Antibody

說明書

中文名稱：

EFTUD2兔多克隆抗體
貨號：

CSB-PA004127
規格：

￥1090
圖片：
Western Blot analysis of HuvEc cells using Snrp116 Polyclonal Antibody
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

Uniprot No.：

Q15029
基因名：

EFTUD2
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
宿主：

Rabbit
反應種屬：

Human,Mouse
免疫原：

Synthesized peptide derived from the Internal region of Human Snrp116.
免疫原種屬：

Homo sapiens (Human)
標記方式：

Non-conjugated
抗體亞型：

IgG
純化方式：

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
產品提供形式：

Liquid
應用范圍：

WB, IHC, ELISA

推薦稀釋比：

Application	Recommended Dilution
WB	1:500-1:2000
IHC	1:100-1:300
ELISA	1:40000

Protocols：

Western Blotting (WB) Protocol
Immunohistochemistry (IHC) Protocol
ELISA Protocol
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

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.
基因功能參考文獻：
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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相關疾病：

Mandibulofacial dysostosis with microcephaly (MFDM)
亞細胞定位：

Nucleus.
蛋白家族：

TRAFAC class translation factor GTPase superfamily, Classic translation factor GTPase family, EF-G/EF-2 subfamily
數據庫鏈接：

HGNC: 30858

OMIM: 603892

KEGG: hsa:9343

STRING: 9606.ENSP00000392094

UniGene: Hs.151787

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