Both genes have been implicated in rare Mendelian disorders: VLDLR (very low-density lipoprotein receptor) – cerebellar ataxia, mental retardation, and disequilibrium syndrome 1, CAMRQ1, MIM#224050 and KCNV2 (voltage-gated potassium channel subunit Kv8.2) – retinal cone dystrophy, RCD3B, MIM#610356. This evidence concerns the gene KCNV2 and aceruloplasminemia.