Interaction of the hemochromatosis gene product HFE with transferrin receptor modulates cellular iron metabolism

Nutrition Reviews

Volumn 56, Issue 12, 1998, Pages 356-358

  Eisenstein, Richard S ^a  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA 2 MICROGLOBULIN; GENE PRODUCT; IRON; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; PROTEIN; TRANSFERRIN RECEPTOR;

ARTICLE; CELL METABOLISM; GENE MUTATION; HEMOCHROMATOSIS; HUMAN; HUMAN CELL; INTESTINE ABSORPTION; IRON ABSORPTION; IRON METABOLISM; IRON OVERLOAD; PROTEIN INTERACTION; REGULATORY MECHANISM;

MAMMALIA;

EID: 0032423846     PISSN: 00296643     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1753-4887.1998.tb01679.x     Document Type: Article

References (15)

1. Cuthbert JA. Iron, HFE, and hemochromatosis update. J Invest Med 1997;45:518-29
2. Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis. Nat Genet 1996;13:399-408
3. Beutler E. The significance of the 187G (H63D) mutation in hemochromatosis. Am J Hum Genet 1997;61:762-4
4. Robson KJ, Shearman JD, Merryweather-Clarke AT, et al. Hemochromatosis: a gene at last? J Med Genet 1997;34:148-51
5. Beutler E. Genetic irony beyond hemochromatosis: clinical effects of HLA-H mutations. Lancet 1997;349:296-7
6. DeSousa M, Reimao R, Lacerda R, et al. Iron overload in β2-microglobulin-deficient mice. Immunol Lett 1994;39:105-11
7. Rothenberg BE, Voland JR. Beta 2 knockout mice develop parenchymal iron overload: a putative role for class I genes of the major histocompatibility complex in iron metabolism. Proc Natl Acad Sci U S A 1996;93:1529-34
8. Zhou XY, Tomatsu S, Fleming RE, et al. HFE gene knockout produces mouse model of hereditary hemochromatosis. Proc Natl Acad Sci U S A 1998;95:2492-7
9. Lebrón JA, Bennett MJ, Vaughn DE, et al. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell 1998;93:111-23
10. Parkkila S, Waheed A, Britton RS, et al. Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract. Proc Natl Acad Sci U S A 1997;94:2534-9
11. Gross CN, Irrinki A, Feder JN, Enns CA. Cotrafficking of HFE, a nonclassical major histocompatibility complex class I protein, with the transferrin receptor implies a role in intracellular iron regulation. J Biol Chem 1998;273:22068-74
12. Waheed A, Parkkila S, Zhou XY, et al. Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta-2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. Proc Natl Acad Sci U S A 1997;94:12384-9
13. Parkkila S, Waheed A, Britton RS, et al. Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. Proc Natl Acad Sci 1997;94:13198-202
14. Feder JN, Penny DM, Irrinki A, et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers in affinity for ligand binding. Proc Natl Acad Sci U S A 1998;95:1472-7
15. Kuhn LC, Schulman HM, Ponka P. Iron transferrin requirements and transferrin receptor expression in proliferating cells. In: Ponka P, Schulman HM, Woodworth RC, eds. Iron storage and transport. Boca Raton: CRC Press, 1990;155-98