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. [provided by RefSeq, Jul 2008]

Eukaryotic Translation Initiation Factor 4H

Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA.

Developmental growth Source: Ensembl
Eukaryotic translation initiation factor 4F complex assembly Source: GO_Central
Formation of translation preinitiation complex Source: GO_Central
Regulation of translational initiation Source: ProtInc
Sexual reproduction Source: Ensembl

Perinuclear region

EIF4H is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of EIF4H may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.