This gene encodes one of the translation initiation factors, which function 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.[7]
Martindale DW, Wilson MD, Wang D, et al. (2000). "Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23". Mamm. Genome. 11 (10): 890–8. doi:10.1007/s003350010166. PMID11003705. S2CID8575994.
Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID12665801. S2CID23783563.
Rush J, Moritz A, Lee KA, et al. (2005). "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells". Nat. Biotechnol. 23 (1): 94–101. doi:10.1038/nbt1046. PMID15592455. S2CID7200157.
Tao WA, Wollscheid B, O'Brien R, et al. (2005). "Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry". Nat. Methods. 2 (8): 591–8. doi:10.1038/nmeth776. PMID16094384. S2CID20475874.
Overview of all the structural information available in the PDB for UniProt: Q9WUK2 (Mouse Eukaryotic translation initiation factor 4H) at the PDBe-KB.