GTPBP2 (GTP binding protein 2) is a translational GTPase involved in ribosome rescue mechanisms during protein synthesis. The protein functions to resolve ribosome stalling caused by non-functional tRNAs, though it exhibits very low GTP-binding activity 1. GTPBP2 acts as a ribosome rescue factor, with inactivation leading to exacerbated peripheral neuropathy in disease models 2. The gene is highly conserved across species (>99% identity between human and mouse), suggesting fundamental biological importance 3. Bi-allelic loss-of-function variants in GTPBP2 cause Jaberi-Elahi syndrome, a rare neurodevelopmental disorder characterized by microcephaly, profound developmental delays, distinctive craniofacial features, ectodermal defects, progressive spasticity, refractory epilepsy, and brain atrophy 4. The syndrome also includes visual/hearing impairments, choreoathetoid movements, and brain iron accumulation that may appear after childhood 5. Clinical presentation shows age-related progression, with ectodermal findings and peripheral neuropathy most prominent in older individuals 5. Disease-associated variants demonstrate loss-of-function impacts in cellular studies, and reduced expression of the Drosophila ortholog causes locomotor impairment, highlighting conserved roles in CNS development 4.