A mouse model of juvenile hemochromatosis.

  title={A mouse model of juvenile hemochromatosis.},
  author={Franklin W. Huang and Jack L. Pinkus and Geraldine S. Pinkus and Mark D Fleming and Nancy Catherine Andrews},
  journal={The Journal of clinical investigation},
  volume={115 8},
Hereditary hemochromatosis is an iron-overload disorder resulting from mutations in proteins presumed to be involved in the maintenance of iron homeostasis. Mutations in hemojuvelin (HJV) cause severe, early-onset juvenile hemochromatosis. The normal function of HJV is unknown. Juvenile hemochromatosis patients have decreased urinary levels of hepcidin, a peptide hormone that binds to the cellular iron exporter ferroportin, causing its internalization and degradation. We have disrupted the… CONTINUE READING
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