Eukaryotic translation initiation factor 4H is a protein that in humans is encoded by the EIF4Hgene.[1][2][3]
This gene encodes one of the translation initiation factors, which function to stimulate the initiation of protein synthesis at the level of mRNA utilization.
This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants.[3]
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Osborne LR, Martindale D, Scherer SW, et al. (1997). "Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients". Genomics. 36 (2): 328–36. doi:10.1006/geno.1996.0469. PMID8812460.
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Rogers GW, Richter NJ, Lima WF, Merrick WC (2001). "Modulation of the helicase activity of eIF4A by eIF4B, eIF4H, and eIF4F". J. Biol. Chem. 276 (33): 30914–22. doi:10.1074/jbc.M100157200. PMID11418588.
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