Type<unk>  hemochromatosis is caused by mutations of the SLC40A1 gene, located on the long arm of chromosome 2, specifically at 2q32.2. The SLC40A1 gene encodes ferroportin, a protein responsible for exporting iron from cells in the intestine, liver, spleen, and kidney, as well as from reticuloendothelial macrophages and the placenta. More than 39 mutations to the SLC40A1 gene have been identified in patients with type<unk>  hemochromatosis. All reported SLC40A1 mutations are deletions or missense mutations, which lead to amino acid substitution. Mutations to SLC40A1 that change the amino acid sequence can result in loss of function or gain of function for the resulting ferroportin protein. The loss of function mutation results in a phenotype that is different from that of a gain of function mutation, and these phenotypes are associated with two different forms of type<unk>  hemochromatosis. Loss-of-function mutations are more frequent and are associated with type<unk> A hemochromatosis. These mutations lead to a defect in the localization of ferroportin. Gain-of-function mutations are associated with type<unk> B and lead to production of ferroportin that resists negative regulation by hepcidin. Unlike other forms of hemochromatosis, which have a recessive pattern of inheritance, type<unk>  is an autosomal dominant disorder. The dominant inheritance pattern occurs in<unk>  because ferroportin is multimeric. Consequently, mutant ferroportin can associate with wild-type ferroportin in multimers and interfere with the function of normal ferroportin proteins.
Hemochromatosis type 4
Haemochromatosis type 3
Hereditary haemochromatosis
Juvenile hemochromatosis
Wilson's disease
Wilson–Mikity syndrome
Type 3c diabetes
Niemann–Pick disease, type C