CDC123 variants associated with developmental abnormalities alter CDC123-eIF2 subunit interactions and impair protein synthesis

The translation initiation factor eIF2 is an essential regulator of cellular protein synthesis with direct links to human physiology and development. Composed of eIF2, {beta}, and {gamma} subunits, eIF2 heterotrimer assembly requires the activity of its dedicated chaperone and the essential protein, CDC123. Accordingly, CDC123 is a key determinant of protein synthesis and cell growth. Previous research has demonstrated that variants in eIF2{gamma} impair neurodevelopment, and CDC123 variants of uncertain significance have recently been reported for pediatric patients with neurologic findings.

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