eukaryotic translation initiation factor 4H

WBSCR1

WSCR1

KIAA0038

Williams-Beuren syndrome chromosome region 1

Eukaryotic translation initiation factor 4H

Williams-Beuren syndrome chromosomal region 1 protein

eIF-4H

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].

Varaico: Literature-Extracted Genetic Variants

EIF4H

RefSeq Summary

Pfam Domains

Gene Aliases

HGNC Name

HGNC Previous Symbol