In humans, mutations in the iron storage protein FTL (ferritin, light polypeptide) and the iron exporter SLC40A1 (solute carrier family 40 [iron-regulated transporter], member 1) lead to hyperferritinemia-cataract syndrome (OMIM #600886). The gene discussed is SLC40A1; the disease is hereditary hyperferritinemia with congenital cataracts.