Proteins Involved in Iron Regulation
Protein | Normal Function | Disorder /Dysregulation | Ref |
---|---|---|---|
Ferritin | H – ferroxidation L – iron core formation | Embryonic lethal Unstable ferritin shells leading to degradation or aggregation | (13) (15, 16) |
IRP-1/2 | IRE binding, Fe sensors Cytoplasmic aconitase (IRP-1) | Aberrant or inappropriate activation of IRE-containing mRNAs; Neurodegeneration with excessive Fe loading with IRP-2 deficiency | (10) (11) |
PANK2 | Coenzyme A biosynthesis | Neurodegeneration with Brain Iron Accumulation (NBIA); cysteine buildup triggers Fe-catalyzed oxidative reactions | (33) |
HFE | Binds TfR | Hemochromatosis; abnormal interaction between mutated HFE and TfR resulting in iron sequestration | (42) |
Frataxin | Heme and Fe-S cluster synthesis Ferroxidation and mineralization | Friedreich’s ataxia; mitochondrial Fe accumulation | (29) (32) |
Cp | Ferroxidation | Aceruloplasminemia; ↓ Fe export from cells | (19) |
HO-1 | Heme degradation | ↓ iron efflux or ↓ mitochondrial Fe accumulation | (56, 57) |
DMT-1 | Fe transport into cytosol | Microcytic anemia; ↓ in Fe uptake, ↓ in Fe recirculation | (26) |
MTs | Metal binding protein | Disruption of metal homeostasis and redox state | (62, 63) |