Recombinant Human Helicase SKI2W (SKIV2L), partial

中文名稱：

人SKIV2L重組蛋白
貨號：

CSB-YP621875HU
規格：
來源：

Yeast
其他：

中文名稱：

人SKIV2L重組蛋白
貨號：

CSB-EP621875HU
規格：
來源：

E.coli
其他：

中文名稱：

人SKIV2L重組蛋白
貨號：

CSB-EP621875HU-B
規格：
來源：

E.coli
共軛：

Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
其他：

中文名稱：

人SKIV2L重組蛋白
貨號：

CSB-BP621875HU
規格：
來源：

Baculovirus
其他：

中文名稱：

人SKIV2L重組蛋白
貨號：

CSB-MP621875HU
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

SKIV2L
Uniprot No.：

Q15477
別名：

SKIV2L; DDX13; SKI2W; SKIV2; W; Helicase SKI2W; Ski2; EC 3.6.4.-; Helicase-like protein; HLP
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
蛋白標簽：

Tag?type?will?be?determined?during?the?manufacturing?process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
產品提供形式：

Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
復溶：

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet ：

Please contact us to get it.

產品評價

靶點詳情

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).
基因功能參考文獻：
1. 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
2. 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
3. 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
4. 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
5. A SKIV2L variant was associated with protection against exudative age-related macular degeneration regardless of subtypes in the Japanese population. PMID: 24865191
6. 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
7. SKIV2L is a likely causal gene for neovascular AMD, conferring a significant protective effect independent of CFH and HTRA1. PMID: 23260260
8. 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
9. A protective effect was observed at rs429608, an intronic SNP in SKIV2L. PMID: 20861866
10. 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
11. SKI2VL was found to be associated with the human exosome, a multiprotein complex involved in RNA degradation. PMID: 11719186
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相關疾?。?/div>
Trichohepatoenteric syndrome 2 (THES2)
亞細胞定位：

Nucleus. Cytoplasm.
蛋白家族：

Helicase family, SKI2 subfamily
數據庫鏈接：

HGNC: 10898

OMIM: 600478

KEGG: hsa:6499

STRING: 9606.ENSP00000364543

UniGene: Hs.89864