The molecular pathogenesis of aceruloplasminemia was investigated by analysis of Cp mutants expressed in mammalian cell culture (Hellman et al., 2002; Kono et al., 2007, 2010; di Patti et al., 2009) and by characterizing murine models (Harris et al., 1999; Patel et al., 2002; Yamamoto et al., 2002). The gene discussed is CP; the disease is aceruloplasminemia.