A Mutation in SLC11A3 is Associated with Autosomal Dominant Hemochromatosis

Overview

Journal Nat Genet

Specialty Genetics

Date 2001 Jun 30

PMID 11431687

Citations 83

Authors

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

Affiliations

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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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