|Other Names||Eukaryotic translation initiation factor 4H, eIF-4H, Williams-Beuren syndrome chromosomal region 1 protein, EIF4H, KIAA0038, WBSCR1, WSCR1|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Synonyms||KIAA0038, WBSCR1, WSCR1|
|Function||Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA.|
|Cellular Location||Cytoplasm, perinuclear region.|
|Tissue Location||The short isoform is the predominant isoform and is expressed alone in liver and skeletal muscle. Both isoforms are expressed in fibroblast, spleen, testis and bone marrow Levels are high in lung and pancreas and low in heart, frontal cortex and kidney.|
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This gene encodes one of the translation initiationfactors, which functions to stimulate the initiation of proteinsynthesis at the level of mRNA utilization. This gene is deleted inWilliams syndrome, a multisystem developmental disorder caused bythe deletion of contiguous genes at 7q11.23. Alternative splicingof this gene generates 2 transcript variants.
Feng, T., et al. Hum. Genet. 128(3):269-280(2010)Zhu, X., et al. Genet. Epidemiol. 34(2):171-187(2010)Mokas, S., et al. Mol. Biol. Cell 20(11):2673-2683(2009)Marintchev, A., et al. Cell 136(3):447-460(2009)Rozovsky, N., et al. RNA 14(10):2136-2148(2008)
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