A mutation in SLC11A3 gene is associated with autosomal dominant hemochromatosis

Authors :: Omer T. Njajou
P.J.L.M. Snijders
Ben A. Oostra
Martijn H. Breuning
Peter Heutink
Marijke Joosse
Berghuis B
van Dongen Jw
Norbert Vaessen
van Duijn Cm
Lodewijk A. Sandkuijl
Rutten Wp
Epidemiology
Clinical Genetics
Neurosciences
Source :: Nature Genetics, 28, 213-214. Nature Publishing Group
Publication Year :: 2001
Publisher :: Nature Publishing Group, 2001.
Abstract: 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.

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