The enigmatic role of the hemochromatosis protein (HFE) in iron absorption

The HFE gene, a member of the class-I transplantation antigen gene family, is responsible for hereditary hemochromatosis, one of the most common inherited diseases in individuals of European descent. Patients exhibit predictable changes in iron homeostasis, including elevations in both transferrin s...

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Bibliographic Details
Published in:Trends in molecular medicine 2003-03, Vol.9 (3), p.118-125
Main Authors: Chorney, Michael J., Yoshida, Yukinori, Meyer, Paul N., Yoshida, Mika, Gerhard, Glenn S.
Format: Article
Language:English
Subjects:
Animals
Biosensing Techniques
Chemokines - metabolism
Enterocytes - metabolism
Hemochromatosis - metabolism
Hemochromatosis Protein
Histocompatibility Antigens Class I - genetics
Histocompatibility Antigens Class I - metabolism
Histocompatibility Antigens Class I - physiology
Humans
Intestinal Absorption
Iron - metabolism
Macrophages - metabolism
Membrane Proteins - genetics
Membrane Proteins - metabolism
Membrane Proteins - physiology
Mice
Mice, Knockout
Models, Biological
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Summary:The HFE gene, a member of the class-I transplantation antigen gene family, is responsible for hereditary hemochromatosis, one of the most common inherited diseases in individuals of European descent. Patients exhibit predictable changes in iron homeostasis, including elevations in both transferrin saturation and serum ferritin levels. A subset of patients progress to overt clinical sequelae, resulting from iron overload. A hallmark of the disease is increased absorption of iron by the intestine. Although the HFE protein appears to modulate the function of the transferrin receptor in vitro, its precise role in vivo remains obscure. With multiple cell types involved in iron metabolism, the function of HFE is likely to be complex.
ISSN:1471-4914
1471-499X
DOI:10.1016/S1471-4914(03)00023-6