Recombinant Human Eukaryotic translation initiation factor 4H (EIF4H)

Uniprot Id

Q15056

Target Species

Human

Target Name

EIF4H

Target Full Name

Eukaryotic translation initiation factor 4H

Target Function

Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA.

Target Involvement

EIF4H is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of EIF4H may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

Target Subcellular Location

Cytoplasm, perinuclear region.

Target Tissue Specificity

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.

Target Synonyms

AU018978; D5Ertd355e; E430026L18Rik; Ef4h; eIF 4H; eIF-4H; EIF4H; Eukaryotic translation initiation factor 4H; IF4H_HUMAN; KIAA0038 ; WBSCR1; Williams Beuren syndrome chromosomal region 1 protein homolog ; Williams Beuren syndrome chromosome region 1; Williams-Beuren syndrome chromosomal region 1 protein; Williams-Beuren syndrome chromosome region 1; WSCR1

Target Background

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.