1. A mutation in SLC11A3 gene is associated with autosomal dominant hemochromatosis
- Author
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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, and Neurosciences
- Subjects
Male ,Genetic Linkage ,Ferroportin ,Molecular Sequence Data ,Biology ,medicine.disease_cause ,Genetic linkage ,Genetics ,medicine ,Humans ,Amino Acid Sequence ,Cation Transport Proteins ,Hemochromatosis ,Hemojuvelin ,Genes, Dominant ,Mutation ,Sequence Homology, Amino Acid ,Transferrin ,medicine.disease ,Juvenile hemochromatosis ,Solute carrier family ,Pedigree ,Hereditary hemochromatosis ,Ferritins ,biology.protein ,Female ,Carrier Proteins - 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.
- Published
- 2001