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Article

The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype.

HGG advances - 10 Oct 2024

Uguen Kevin, Le Tertre Marlène, Tchernitchko Dimitri, Elbahnsi Ahmad, Maestri Sandrine, Gourlaouen Isabelle, Férec Claude, Ka Chandran, Callebaut Isabelle, Le Gac Gérald

Abstract excerpt

Heterozygous mutations in SLC40A1, encoding a multi-pass membrane protein of the major facilitator superfamily known as ferroportin 1 (FPN1), are responsible for two distinct hereditary iron-overload diseases: ferroportin disease, which is associated with reduced FPN1 activity (i.e., decrease in cellular iron export), and SLC40A1-related hemochromatosis, which is associated with abnormally high FPN1 activity...

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Identifiers

PMID: 39039793
DOI: 10.1016/j.xhgg.2024.100335
PMCID: PMC11343060

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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