EIF4A3 is an ATP dependent RNA helicase belonging to the DEAD box protein family. The nucleocytoplasmic shuttling protein is involved in several cellular processes affecting the secondary structure of RNA. This includes the initiation of translation, nuclear and mitochondrial splicing, and ribosomal and spliceosome assembly. By carrying out its role in these cellular processes, the EIF4A3 protein is believed to contribute to the systems of embryogenesis, spermatogenesis, and cellular growth and division.
The gene is involved in craniofacial development and mutations in the gene are associated with the congenital syndrome of Robin sequence with cleft mandible and limb anomalies. Also known as Richieri-Costa-Pereira Syndrome (RCPS), the autosomal recessive disorder results in a short stature, cleft mandible, hand anomalies and clubfoot. Studies have also linked the gene to neurodevelopmental diseases through the nonsense-mediated mRNA decay (NMD) pathway.