Open AccessDiscovery of the Hemochromatosis Gene Will Require Rethinking the Regulation of Iron Metabolism
Author(s) -
Fleet James C.
Publication year - 1996
Publication title -
nutrition reviews
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.958
H-Index - 150
eISSN - 1753-4887
pISSN - 0029-6643
DOI - 10.1111/j.1753-4887.1996.tb03949.x
Subject(s) - hemochromatosis , hereditary hemochromatosis , mechanism (biology) , gene , major histocompatibility complex , human leukocyte antigen , biology , genetics , hepcidin , disease , bioinformatics , medicine , immunology , antigen , inflammation , philosophy , epistemology
The identity of the protein responsible for hemochromatosis, the iron overload disease, has eluded scientists for years. However, a recent report identifies the gene where the hemochromatosis defect lies. It is a gene that encodes a major histocompatibility complex (MHC) class‐I‐like protein called HLA‐H. The mechanism by which an HLA‐H defect alters iron metabolism is still unidentified. However, this new discovery will certainly ignite a new wave of study into the physiology of iron metabolism and its regulation.