EIF4H Antibody – Rabbit Polyclonal

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]

EIF4H: eukaryotic translation initiation factor 4H stimulates protein translation. May stimulate the activities of EIF4A, EIF4B and EIF4F during the steps involving mRNA binding and utilization in the initiation of protein biosynthesis. Binds mRNA. Two alternatively spliced isoforms have been described. The short isoform is the predominant isoform and is expressed alone in liver and skeletal muscle. Both isoforms are expressed in fibroblast, spleen, testis and bone marrow. Levels are high in lung and pancreas and low in heart, frontal cortex and kidney.

Protein type: Translation; RNA-binding; Translation initiation

Chromosomal Location of Human Ortholog: 7q11.23

Cellular Component: cytosol; eukaryotic translation initiation factor 4F complex; membrane; perinuclear region of cytoplasm; polysome

Molecular Function: helicase activity; nucleotide binding; protein binding; ribosomal small subunit binding; RNA binding; RNA strand annealing activity; RNA strand-exchange activity; translation factor activity, nucleic acid binding; translation initiation factor activity

Biological Process: developmental growth; formation of translation preinitiation complex; regulation of translational initiation; sexual reproduction; translational initiation; viral reproduction

Disease: Williams-beuren Syndrome