A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.

Nature genetics (2001-06-30)

O T Njajou, N Vaessen, M Joosse, B Berghuis, J W van Dongen, M H Breuning, P J Snijders, W P Rutten, L A Sandkuijl, B A Oostra, C M van Duijn, P Heutink

PMID11431687

摘要

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.