AIMP proteins include non-enzymatic factors including aminoacyl-tRNA synthetases (ARSs) constituting a mammalian macromolecular multienzyme complex vital for various signalling pathways in addition to protein synthesis. Several mutations in ARSs have been implicated in peripheral neuropathies and severe leukoencephalopathies. AIMP2codes for p38, a crucial component involved in the assembly of multi-ARS complex and suppression of cell proliferation by down-regulation of c-Myc. Nonsense variants in AIMP2 have been described to result in reduced p38 mRNA levels, leading to impaired formation of the multienzyme complex and/ or loss of stability causing the aforementioned neurodevelopmental disorder in humans. Diagnostic testing includes next generation sequencing as the features are overlapping with other genetic neurological conditions.
AIMP2