Aliases for EIF4H Gene
External Ids for EIF4H Gene
Previous HGNC Symbols for EIF4H Gene
Previous GeneCards Identifiers for EIF4H Gene
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]
GeneCards Summary for EIF4H Gene
EIF4H (Eukaryotic Translation Initiation Factor 4H) is a Protein Coding gene. Diseases associated with EIF4H include Williams-Beuren Syndrome. Among its related pathways are Translation Insulin regulation of translation and Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is EIF4B.
UniProtKB/Swiss-Prot for EIF4H Gene
Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA.