A genetic defect of an iron pump on chromosome 20 is postulated to cause human hemochromatosis.
Hemochromatosis is postulated to be caused by a heterozygous or homozygous defect of a gene on the short arm of the human chromosome 20 coding for an ubiquitous iron carrier membrane protein responsible for transporting iron ions out of cells. This iron pump would be very important to stabilize the membrane potential and to avoid excessive intracellular storage of iron with the consequence of damage to cells by lipid peroxidation of membranes.
Peuschel
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D002890:Chromosomes, Human, Pair 20; D006432:Hemochromatosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007501:Iron / Q000502:physiology*; D008054:Lipid Peroxides / Q000378:metabolism; D008564:Membrane Potentials
D008054:Lipid Peroxides; D007501:Iron