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DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. Additionally we are shipping and many more products for this protein.
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Human Polyclonal SKIV2L Primary Antibody for WB - ABIN2775207
Fernando, Stevens, Sabeti, Walsh, McWhinnie, Shah, Green, Rioux, Vyse: Identification of two independent risk factors for lupus within the MHC in United Kingdom families. in PLoS genetics 2008
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.
Study reported three point mutations, which have not been previously described in other patients with THES in SKIV2L and TTC37 (show TTC37 Antibodies) genes, including one nonsense, one frameshift, and one missense mutations.
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]
A SKIV2L variant was associated with protection against exudative age-related macular degeneration regardless of subtypes in the Japanese population.
Novel homozygous frameshift mutations in the AKR1D1 (show AKR1D1 Antibodies) gene and in the SKIV2L gene were found in a family with severe infantile liver disease.
SKIV2L is a likely causal gene for neovascular AMD (show AMD1 Antibodies), conferring a significant protective effect independent of CFH (show CFH Antibodies) and HTRA1 (show HTRA1 Antibodies).
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.
A protective effect was observed at rs429608, an intronic SNP in SKIV2L.
Our results do not support any major role of the 4 AMD (show AMD1 Antibodies)-associated variants in the risk of developing PCV, but favor a predominant association with the RDBP (show RDBP Antibodies)-SKIV2L variants
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex.
superkiller viralicidic activity 2-like
, helicase SKI2W
, helicase-like protein