Click here to close
Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly.
We suggest using a current version of Chrome,
FireFox, or Safari.
Impaired iron transport activity of ferroportin 1 in hereditary iron overload.
McGregor JA
,
Shayeghi M
,
Vulpe CD
,
Anderson GJ
,
Pietrangelo A
,
Simpson RJ
,
McKie AT
.
???displayArticle.abstract???
To investigate the functional significance of mutations in Ferroportin that cause hereditary iron overload, we directly measured the iron efflux activity of the proteins expressed in Xenopus oocytes. We found that wild type and mutant Ferroportin molecules (A77D, N144H, Q248H and V162Delta) were all expressed at the plasma membrane at similar levels. All mutations caused significant reductions in (59)Fe efflux compared to wild type but all retained some residual transport activity. A77D had the strongest effect on (59)Fe efflux (remaining activity 9% of wild-type control), whereas the N144H mutation retained the highest efflux activity (42% of control). The Q248H and V162Delta mutations were intermediate between these values. Co-injection of mutant and wild-type mRNAs revealed that the A77D and N144H mutations had a dominant negative effect on the function of the WT protein.
Abboud,
A novel mammalian iron-regulated protein involved in intracellular iron metabolism.
2000, Pubmed
Abboud,
A novel mammalian iron-regulated protein involved in intracellular iron metabolism.
2000,
Pubmed
Barton,
Genotypic and phenotypic heterogeneity of African Americans with primary iron overload.
2003,
Pubmed
Beutler,
Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans.
2003,
Pubmed
Canonne-Hergaux,
The Nramp2/DMT1 iron transporter is induced in the duodenum of microcytic anemia mk mice but is not properly targeted to the intestinal brush border.
2000,
Pubmed
Cazzola,
Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3).
2002,
Pubmed
De Domenico,
The molecular basis of ferroportin-linked hemochromatosis.
2005,
Pubmed
Devalia,
Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3).
2002,
Pubmed
Donovan,
The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis.
2005,
Pubmed
Donovan,
Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter.
2000,
Pubmed
,
Xenbase
Drakesmith,
Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin.
2005,
Pubmed
Gordeuk,
Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene.
2003,
Pubmed
Liu,
Functional consequences of ferroportin 1 mutations.
2005,
Pubmed
McKie,
A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation.
2000,
Pubmed
,
Xenbase
McKie,
The SLC40 basolateral iron transporter family (IREG1/ferroportin/MTP1).
2004,
Pubmed
Montosi,
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.
2001,
Pubmed
Nemeth,
Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization.
2004,
Pubmed
Njajou,
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
2001,
Pubmed
Pietrangelo,
Hereditary hemochromatosis--a new look at an old disease.
2004,
Pubmed
Pietrangelo,
The ferroportin disease.
2004,
Pubmed
Schimanski,
In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations.
2005,
Pubmed
,
Xenbase
Touret,
Molecular and cellular mechanisms underlying iron transport deficiency in microcytic anemia.
2004,
Pubmed
Wallace,
Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis.
2002,
Pubmed
