FunctionStimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA.
Tissue specificityThe 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.
Involvement in diseaseNote=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.
Williams Beuren syndrome chromosomal region 1 protein homolog antibody
Williams Beuren syndrome chromosome region 1 antibody
Williams-Beuren syndrome chromosomal region 1 protein antibody
Williams-Beuren syndrome chromosome region 1 antibody
References for Anti-eIF4H antibody (ab64323)
This product has been referenced in:
Sawhney S et al. Alpha-enolase is upregulated on the cell surface and responds to plasminogen activation in mice expressing a ?133p53a mimic. PLoS One10:e0116270 (2015).
Read more (PubMed: 25643152) »
Meijer HA et al. Translational repression and eIF4A2 activity are critical for microRNA-mediated gene regulation. Science340:82-5 (2013).
Read more (PubMed: 23559250) »