Recombinant Human Helicase SKI2W (SKIV2L), partial

Code CSB-YP621875HU
MSDS
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Source Yeast
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Code CSB-EP621875HU
MSDS
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Source E.coli
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Code CSB-EP621875HU-B
MSDS
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Source E.coli
Conjugate 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.
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Code CSB-BP621875HU
MSDS
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Source Baculovirus
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Code CSB-MP621875HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
SKIV2L
Uniprot No.
Alternative Names
SKIV2L; DDX13; SKI2W; SKIV2; W; Helicase SKI2W; Ski2; EC 3.6.4.-; Helicase-like protein; HLP
Species
Homo sapiens (Human)
Protein Length
Partial
Tag Info
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.
Form
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.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution
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.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
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.
Lead Time
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.
Notes
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.

Customer Reviews and Q&A

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Target Background

Function
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).
Gene References into Functions
  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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Involvement in disease
Trichohepatoenteric syndrome 2 (THES2)
Subcellular Location
Nucleus. Cytoplasm.
Protein Families
Helicase family, SKI2 subfamily
Database Links

HGNC: 10898

OMIM: 600478

KEGG: hsa:6499

STRING: 9606.ENSP00000364543

UniGene: Hs.89864

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