A mutation in SLC11A3 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.
Njajou
O T
OT
Genetic-Epidemiology Unit: Department of Epidemiology & Biostatistics and Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands.
Vaessen
N
N
Joosse
M
M
Berghuis
B
B
van Dongen
J W
JW
Breuning
M H
MH
Snijders
P J
PJ
Rutten
W P
WP
Sandkuijl
L A
LA
Oostra
B A
BA
van Duijn
C M
CM
Heutink
P
P
D000595:Amino Acid Sequence; D002352:Carrier Proteins / Q000235:genetics*; D027682:Cation Transport Proteins; D005260:Female; D005293:Ferritins / Q000097:blood; D005799:Genes, Dominant; D008040:Genetic Linkage; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D017386:Sequence Homology, Amino Acid; D014168:Transferrin / Q000032:analysis; D000098742:Ferroportin
D002352:Carrier Proteins; D027682:Cation Transport Proteins; D014168:Transferrin; D000098742:Ferroportin; D005293:Ferritins