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Antibody detects endogenous levels of total EIF4H.
This gene encodes one of the translation initiation factors, which functions 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.
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Protein Aliases: eIF-4H; Eukaryotic translation initiation factor 4H; Williams-Beuren syndrome chromosomal region 1 protein; Williams-Beuren syndrome chromosomal region 1 protein homolog; Williams-Beuren syndrome chromosome region 1; Williams-Beuren syndrome chromosome region 1 homolog
Gene Aliases: AU018978; D5Ertd355e; E430026L18Rik; Ef4h; eIF-4H; EIF4H; KIAA0038; mKIAA0038; WBSCR1; WSCR1
UniProt ID: (Human) Q15056, (Mouse) Q9WUK2
Entrez Gene ID: (Human) 7458, (Mouse) 22384
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