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. AIMP2 codes 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