A mutation in SLC11A3 gene is associated with autosomal dominant hemochromatosis
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.
|Keywords||*Cation Transport Proteins, *Mutation, 0 (Carrier Proteins), 0 (Cation Transport Proteins), 0 (metal transporting protein 1), 11096-37-0 (Transferrin), 9007-73-2 (Ferritin), Amino Acid Sequence, Carrier Proteins/*genetics, Diabetes and related disorders, Female, Ferritin/blood, Genes, Dominant, Hemochromatosis/*genetics, Human, Linkage (Genetics), Male, Molecular Sequence Data, Pedigree, Sequence Homology, Amino Acid, Transferrin/analysis|
|Persistent URL||dx.doi.org/10.1038/90038, hdl.handle.net/1765/5924|
Njajou, O.T., Vaessen, N., Joosse, M., Berghuis, B., Breuning, M.H., Snijders, P.J.L.M., … Heutink, P.. (2001). A mutation in SLC11A3 gene is associated with autosomal dominant hemochromatosis. Nature Genetics, 28(3), 213–214. doi:10.1038/90038