AIMP proteins constitute an important group of macromolecular multienzyme complex proteins vital for protein synthesis and various signalling pathways. Several mutations in related proteins have been implicated in peripheral neuropathies and severe leukodystrophies. Loss of function variants in AIMP2 lead to impaired formation of the multienzyme complex and/ or loss of its stability causing the aforementioned neurodevelopmental disorder in humans. Diagnosis can be confirmed by genetic testing using next generation sequencing.
AIMP2