A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
Njajou OT., Vaessen N., Joosse M., Berghuis B., van Dongen JW., Breuning MH., Snijders PJ., Rutten WP., Sandkuijl LA., Oostra BA., van Duijn CM., Heutink P.
Hereditary hemochromatosis (HH) is a very common disorder characterized by iron overload and multi-organ damage. Several genes involved in iron metabolism have been implicated in the pathology of HH (refs. 1-4). We report that a mutation in the gene encoding Solute Carrier family 11, member A3 (SLC11A3), also known as ferroportin, is associated with autosomal dominant hemochromatosis.