Eukaryotic Translation Initiation Factor 4H (EIF4H)

WBSCR1; WSCR1; Williams-Beuren Syndrome Chromosome Region 1

Eukaryotic Translation Initiation Factor 4H (EIF4H)
EIF4H 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.
Amino acid sequence analysis of 3 EIF4H tryptic fragments revealed 100% sequence identity to the human WBSCR1 protein. The authors demonstrated that the 25-kD rabbit EIF4H protein stimulates the in vitro activities of EIF4B and EIF4F in globin synthesis, as well as the in vitro RNA-dependent ATPase activities of EIF4A, EIF4B, and EIF4F.

Organism species: Homo sapiens (Human)

Organism species: Mus musculus (Mouse)

Organism species: Rattus norvegicus (Rat)