Eukaryotic Translation Initiation Factor 4A, Isoform 3

Alternative Names

  • EIF4A3
  • DEAD/H Box 48
  • DDX48
  • NUK34
  • Nuclear Matrix Protein 265
  • NMP265
  • KIAA0111
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OMIM Number

608546

Gene Map Locus
17q25.3

Description

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.   

Molecular Genetics

The EIF4A3 gene, located on chromosome 17, is made up of approximately 11 kb of genomic DNA.  The coding region consists of 12 exons.  The 46 kDa protein encoded by the gene is made up of 411 amino acids.  Mutations of the EIF4A3 gene commonly seen in RCPS include transitions and nucleotide repeat expansions both in the homozygous and compound heterozygous state.  

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Wakil et al. (2016) identified susceptibility loci for Coronary Artery Disease (CAD) and Myocardial Infarction (MI) in Saudi Arabs.  Genome wide association study was carried out on 2668 cases and 3000 controls that were recruited to the based on their cardiovascular health.  To identify statistically significant or suggestive associations, p values less than 5x10-8 or 1x10-5 respectively were considered.  The SNP rs7211079 on the EIF4A3 gene was discovered to have a suggestive association with MI and the A allele was protective against the disease [p=4.81E-06, OR=0.77(0.7-0.85)].  While the gene has been implicated in neuro-degenerative disorders, its role in cardiovascular disease is yet to be uncovered.  

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