Notably, the impact of FRRS1L on synaptic function is independent of any enzymatic activity, as FRRS1L lacks a ferrochelatase domain, and is consistent with the symptoms of human patients suffering from FRRS1L loss of function, which leads to encephalopathies and severe intellectual disabilities; disease mutations do indeed disrupt FRRS1L binding to AMPARs, suggesting that these mutations impair the regulation of AMPAR early biogenesis by FRRS1L [416, 423]. This evidence concerns the gene FRRS1L and Intellectual disability.