EIF4H, Official Symbol EIF4Hprovided by HGNC Official Full Name eukaryotic translation initiation factor 4Hprovided by HGNC Primary source HGNC:HGNC:12741 See related Ensembl:ENSG00000106682 MIM:603431; AllianceGenome:HGNC:12741 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as WSCR1; WBSCR1; 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 See more Orthologs mouse all