Full name: eukaryotic translation initiation factor 4H

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: WBSCR1; WSCR1; eIF-4H

Summary: 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]

Expression: Ubiquitous expression in bone marrow (RPKM 113.5), placenta (RPKM 104.0) and 25 other tissues

Gene size: 22741bp

Exon count: 7