溶质载体家族11成员3（SLC11A3）中的一种突变与常染色体显性遗传性血色素沉着症相关。
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
作者信息
Njajou O T, Vaessen N, Joosse M, Berghuis B, van Dongen J W, Breuning M H, Snijders P J, Rutten W P, Sandkuijl L A, Oostra B A, van Duijn C M, Heutink P
机构信息
Genetic-Epidemiology Unit: Department of Epidemiology & Biostatistics and Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands.
出版信息
Nat Genet. 2001 Jul;28(3):213-4. doi: 10.1038/90038.
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.
遗传性血色素沉着症（HH）是一种非常常见的疾病，其特征为铁过载和多器官损伤。铁代谢相关的多个基因已被认为与HH的发病机制有关（参考文献1-4）。我们报告称，编码溶质载体家族11成员A3（SLC11A3）（也称为铁转运蛋白）的基因突变与常染色体显性血色素沉着症相关。
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