Inherited disorders of iron storage and transport.
Diverse hereditary disorders associated with iron accumulation cause widespread organ damage. New insights into cellular pathways of iron transport have emerged from the identification of molecules implicated in heritable defects of iron metabolism. Unravelling the genetic basis of rare variants of haemochromatosis should provide vital functional information to further our mechanistic understanding of iron homeostasis.
Griffiths
W J
WJ
Dept of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK CB2 2QQ.
Kelly
A L
AL
Cox
T M
TM
D000328:Adult; D000818:Animals; D002648:Child; D006680:HLA Antigens / Q000235:genetics / Q000378:metabolism; D006432:Hemochromatosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007501:Iron / Q000378:metabolism*; D008565:Membrane Proteins; D051379:Mice
C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; C499535:Hfe protein, mouse; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron