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Article

Defective trafficking and localization of mutated transferrin receptor 2: implications for type 3 hereditary hemochromatosis.

American journal of physiology. Cell physiology - 1 Feb 2008

Wallace Daniel F, Summerville Lesa, Crampton Emily M, Subramaniam V Nathan

Abstract excerpt

Transferrin receptor 2 (TfR2), a homologue of transferrin receptor 1 (TfR1), is a key molecule involved in the regulation of iron homeostasis. Mutations in TfR2 result in iron overload with similar features to HFE-associated hereditary hemochromatosis. The precise role of TfR2 in iron metabolism and the functional consequences of disease-causing mutations have not been fully determined. We have expressed...

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Share to Cell Compartmentation
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18094142
DOI: 10.1152/ajpcell.00492.2007

Genes

HFE

Provenance

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Defective trafficking and localization of mutated transferrin receptor 2: implications for type 3 hereditary hemochromatosis.PMID 18094142Read ↗

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Transgenic HFE-dependent induction of hepcidin in mice does not require transferrin receptor-2.Semantic proximity Read ↗

Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis.Semantic proximity Read ↗

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Transferrin receptor 2: evidence for ligand-induced stabilization and redirection to a recycling pathway.Semantic proximity Read ↗

Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2.Semantic proximity Read ↗

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