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Journal article

In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations.

Abstract:

Type IV hemochromatosis is associated with dominant mutations in the SLC40A1 gene encoding ferroportin (FPN). Known as the "ferroportin disease," this condition is typically characterized by high serum ferritin, reduced transferrin saturation, and macrophage iron loading. Previously FPN expression in vitro has been shown to cause iron deficiency in human cell lines and mediate iron export from Xenopus oocytes. We confirm these findings by showing that expression of human FPN in a human cell l...

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Publication status:
Published

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Publisher copy:
10.1182/blood-2004-11-4502

Authors


Schimanski, LM More by this author
Drakesmith, H More by this author
Merryweather-Clarke, AT More by this author
Viprakasit, V More by this author
Edwards, JP More by this author
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Journal:
Blood
Volume:
105
Issue:
10
Pages:
4096-4102
Publication date:
2005-05-05
DOI:
EISSN:
1528-0020
ISSN:
0006-4971
URN:
uuid:f6082118-e153-4194-bae1-77942e0610af
Source identifiers:
10166
Local pid:
pubs:10166

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