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Am J Physiol Cell Physiol 294: C383-C390, 2008. First published December 19, 2007; doi:10.1152/ajpcell.00492.2007
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Protein and Vesicle Trafficking, Cytoskeleton

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

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

Membrane Transport Laboratory, The Queensland Institute of Medical Research, Brisbane, Queensland, Australia

Submitted 17 October 2007 ; accepted in final form 17 December 2007

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 wild-type and various mutant forms of TfR2 that are associated with human disease in a mouse liver cell line. Intracellular and surface analysis shows that all the TfR2 mutations analyzed cause the intracellular retention of the protein in the endoplasmic reticulum, whereas the wild-type protein is expressed in endocytic structures and at the cell surface. Our results indicate that the majority of mutations that cause type 3 hereditary hemochromatosis are a consequence of the defective localization of the protein.

iron overload; aberrant localization; endoplasmic reticulum; mislocalization


Address for reprint requests and other correspondence: V. N. Subramaniam, Membrane Transport Laboratory, The Queensland Institute of Medical Research, 300 Herston Road, Herston, Brisbane, QLD 4006, Australia (e-mail: nathan.subramaniam{at}qimr.edu.au)




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S. Pelucchi, R. Mariani, P. Trombini, S. Coletti, M. Pozzi, V. Paolini, D. Barisani, and A. Piperno
Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2
Haematologica, February 1, 2009; 94(2): 276 - 279.
[Abstract] [Full Text] [PDF]


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