SKIV2L Antibody

Code CSB-PA621875ESR2HU
Size US$166
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  • Immunohistochemistry of paraffin-embedded human lung cancer using CSB-PA621875ESR2HU at dilution of 1:100

  • Immunohistochemistry of paraffin-embedded human ovarian cancer using CSB-PA621875ESR2HU at dilution of 1:100

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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) SKIV2L Polyclonal antibody
Uniprot No.
Target Names
SKIV2L
Alternative Names
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
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Helicase SKI2W protein (1-140AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
Non-conjugated
Clonality
Polyclonal
Isotype
IgG
Purification Method
Antigen Affinity Purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Form
Liquid
Tested Applications
ELISA, IHC
Recommended Dilution
Application Recommended Dilution
IHC 1:20-1:200
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
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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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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