A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

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

doi:10.1038/90038

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

Nat Genet. 2001 Jul;28(3):213-4. doi: 10.1038/90038.

Authors

O T Njajou¹, 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

Affiliation

¹ Genetic-Epidemiology Unit: Department of Epidemiology & Biostatistics and Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands.

PMID: 11431687
DOI: 10.1038/90038

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.

MeSH terms

Amino Acid Sequence
Carrier Proteins / genetics*
Cation Transport Proteins*
Female
Ferritins / blood
Genes, Dominant
Genetic Linkage
Hemochromatosis / genetics*
Humans
Male
Molecular Sequence Data
Mutation*
Pedigree
Sequence Homology, Amino Acid
Transferrin / analysis

Substances

Carrier Proteins
Cation Transport Proteins
Transferrin
metal transporting protein 1
Ferritins