EIF4H Human

EIF4H is involved in the process of translation initiation, which is the first step in the synthesis of proteins from mRNA. It functions by stimulating the RNA helicase activity of another protein called EIF4A . EIF4A is an ATP-dependent RNA helicase that unwinds secondary structures in the 5’ untranslated region (UTR) of mRNAs, facilitating the binding of the ribosome . EIF4H enhances this activity, thereby promoting the efficient recruitment of ribosomes to the mRNA .

The recombinant form of EIF4H is typically produced in E. coli and is available as a non-glycosylated polypeptide chain containing 272 amino acids . This recombinant protein includes a 24 amino acid His-tag at the N-terminus, which aids in its purification using chromatographic techniques . The protein is usually stored in a buffer containing Tris-HCl, NaCl, glycerol, and DTT to maintain its stability .

Mutations or deletions in the EIF4H gene are associated with Williams-Beuren Syndrome (WBS), a developmental disorder characterized by cardiovascular and musculoskeletal abnormalities . The deletion of contiguous genes at 7q11.23, including EIF4H, leads to the manifestation of this syndrome .

Recombinant EIF4H is widely used in research to study the mechanisms of translation initiation and the role of RNA helicases in this process . It is also utilized in studies investigating the regulation of protein synthesis and the impact of genetic mutations on this essential cellular function .

For research purposes, recombinant EIF4H should be stored at 2-4°C if it will be used within a few weeks. For longer-term storage, it is recommended to keep the protein frozen at -20°C, with the addition of a carrier protein to prevent degradation . Repeated freeze-thaw cycles should be avoided to maintain the protein’s integrity .