Ontology highlight
ABSTRACT:
SUBMITTER: Huang FW
PROVIDER: S-EPMC1180543 | biostudies-literature | 2005 Aug
REPOSITORIES: biostudies-literature
Huang Franklin W FW Pinkus Jack L JL Pinkus Geraldine S GS Fleming Mark D MD Andrews Nancy C NC
The Journal of clinical investigation 20050801 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 murin ...[more]