SKIV2L Antibody
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中文名稱：SKIV2L兔多克隆抗體
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貨號：CSB-PA021358GA01HU
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規(guī)格：￥3,900
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其他：
產(chǎn)品詳情
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Uniprot No.：
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基因名：SKIV2L
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別名：SKIV2L antibody; DDX13 antibody; SKI2W antibody; SKIV2 antibody; W antibody; Helicase SKI2W antibody; Ski2 antibody; EC 3.6.4.- antibody; Helicase-like protein antibody; HLP antibody
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宿主：Rabbit
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反應(yīng)種屬：Human,Mouse,Rat
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免疫原：Human SKIV2L
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免疫原種屬：Homo sapiens (Human)
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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 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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產(chǎn)品提供形式：Liquid
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應(yīng)用范圍：ELISA,WB
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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(chǎn)品評價
相關(guān)產(chǎn)品
靶點詳情
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功能：Helicase; has ATPase activity. Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C).
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基因功能參考文獻：
- This meta-analysis showed that SKIV2L rs429608 was statistically associated with age-related macular degeneration(AMD) and it might exert a protective effect on AMD. Further investigations are needed to validate the association and confirm the role of SKIV2L in AMD. PMID: 27484132
- The present study was the first, to the best of our knowledge, to report a case of a boy with THES resulting from compound heterozygous mutations of the SKIV2L gene in China. PMID: 27431780
- Study reported three point mutations, which have not been previously described in other patients with THES in SKIV2L and TTC37 genes, including one nonsense, one frameshift, and one missense mutations. PMID: 27050310
- Data from 4 consanguineous families in Saudi Arabia suggest SKIV2L mutations in tricho-hepato-enteric syndrome can include deletions (c.3559_3579del, p.1187_1193del; 4 subjects) and nonsense mutation (c.C4102T, p.Q1368X; 1 subject). [CASE REPORT] PMID: 25714577
- A SKIV2L variant was associated with protection against exudative age-related macular degeneration regardless of subtypes in the Japanese population. PMID: 24865191
- Novel homozygous frameshift mutations in the AKR1D1 gene and in the SKIV2L gene were found in a family with severe infantile liver disease. PMID: 23679950
- SKIV2L is a likely causal gene for neovascular AMD, conferring a significant protective effect independent of CFH and HTRA1. PMID: 23260260
- The results showed that mutations in genes encoding SKIV2L cause trichohepatoenteric syndrome, establishing a link between defects of the human exosome complex and a Mendelian disease. PMID: 22444670
- A protective effect was observed at rs429608, an intronic SNP in SKIV2L. PMID: 20861866
- Our results do not support any major role of the 4 AMD-associated variants in the risk of developing PCV, but favor a predominant association with the RDBP-SKIV2L variants PMID: 19556007
- SKI2VL was found to be associated with the human exosome, a multiprotein complex involved in RNA degradation. PMID: 11719186
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相關(guān)疾病：Trichohepatoenteric syndrome 2 (THES2)
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亞細胞定位：Nucleus. Cytoplasm.
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蛋白家族：Helicase family, SKI2 subfamily
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數(shù)據(jù)庫鏈接：
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