Since CA-VIII has an effect on the behaviour of ITPR1, non-synonymous single nucleotide variations (nsSNVs) to CA-VIII have also been shown to have an effect on Ca2+ homeostasis resulting in the development of cerebellar ataxia, mental retardation and disequilibrium syndrome 3 (CAMRQ3) (MIM No: 613227). Here, CA8 is linked to aceruloplasminemia.