Genes involved in inherited human iron disorders
| Protein (gene symbol) [aliases] . | Human chromosome (map position) . | Protein function . | Disease (caused by loss-of-function mutations unless otherwise noted) . |
|---|---|---|---|
| Ceruloplasmin (CP) | 3 (150 Mb) | Plasma ferroxidase | Aceruloplasminemia184 |
| DMT1 (SLC11A2) [NRAMP2, DCT1] | 12 (50 Mb) | Transmembrane iron transporter (importer) | Anemia with hepatic iron overload172 |
| Ferritin H chain (FTH1) | 11 (61 Mb) | Subunit of iron storage protein; has ferroxidase activity | Iron overload (mutation disrupting iron regulatory element)49 |
| Ferritin L chain (FTL) | 19 (54 Mb) | Subunit of iron storage protein | Hyperferritinemia-cataract syndrome (mutation disrupting iron regulatory element)48 |
| Ferroportin (SLC40A1) [IREG1, MTP1] | 2 (190 Mb) | Transmembrane iron transporter (exporter) | Macrophage-predominant iron overload (loss-of-function mutations that cause protein mis-localization)156 |
| Hemochromatosis (gain-of-function mutations that cause insensitivity to hepcidin)158,159 | |||
| Frataxin (FXN) | 9 (71 Mb) | Mitochondrial iron chaperone | Friedreich ataxia212 |
| Glutaredoxin 5 (GLRX5) [GRX5] | 14 (95 Mb) | Participates in Fe-S cluster biogenesis | Anemia with iron overload and sideroblasts171 |
| Hemojuvelin (HFE2) [RGMC] | 1 (144 Mb) | Bone morphogenetic protein coreceptor | Juvenile hemochromatosis138 |
| Hepcidin (HAMP) [LEAP1] | 19 (40 Mb) | Iron regulatory hormone, binds ferroportin to cause its inactivation and degradation | Juvenile hemochromatosis161 |
| HFE (HFE) [HLA-H] | 6 (26 Mb) | Regulates hepcidin expression, mechanism uncertain; interacts with TFR1 and TFR2; may participate in a signaling complex with TFR2 | Classic HLA-linked hemochromatosis121 |
| Mitoferrin (SLC25A37) | 8 (23 Mb) | Mitochondrial iron import | Erythropoietic protoporphyria17 |
| Transferrin (TF) | 3 (135 Mb) | Plasma iron binding protein, ligand for TFR1 and TFR2 | Atransferrinemia (hypotransferrinemia)178 |
| Transferrin receptor-2 (TFR2) | 7 (100 Mb) | Sensor for diferric transferrin; regulates hepcidin expression; may participate in a signaling complex with HFE | Hemochromatosis213 |
| Protein (gene symbol) [aliases] . | Human chromosome (map position) . | Protein function . | Disease (caused by loss-of-function mutations unless otherwise noted) . |
|---|---|---|---|
| Ceruloplasmin (CP) | 3 (150 Mb) | Plasma ferroxidase | Aceruloplasminemia184 |
| DMT1 (SLC11A2) [NRAMP2, DCT1] | 12 (50 Mb) | Transmembrane iron transporter (importer) | Anemia with hepatic iron overload172 |
| Ferritin H chain (FTH1) | 11 (61 Mb) | Subunit of iron storage protein; has ferroxidase activity | Iron overload (mutation disrupting iron regulatory element)49 |
| Ferritin L chain (FTL) | 19 (54 Mb) | Subunit of iron storage protein | Hyperferritinemia-cataract syndrome (mutation disrupting iron regulatory element)48 |
| Ferroportin (SLC40A1) [IREG1, MTP1] | 2 (190 Mb) | Transmembrane iron transporter (exporter) | Macrophage-predominant iron overload (loss-of-function mutations that cause protein mis-localization)156 |
| Hemochromatosis (gain-of-function mutations that cause insensitivity to hepcidin)158,159 | |||
| Frataxin (FXN) | 9 (71 Mb) | Mitochondrial iron chaperone | Friedreich ataxia212 |
| Glutaredoxin 5 (GLRX5) [GRX5] | 14 (95 Mb) | Participates in Fe-S cluster biogenesis | Anemia with iron overload and sideroblasts171 |
| Hemojuvelin (HFE2) [RGMC] | 1 (144 Mb) | Bone morphogenetic protein coreceptor | Juvenile hemochromatosis138 |
| Hepcidin (HAMP) [LEAP1] | 19 (40 Mb) | Iron regulatory hormone, binds ferroportin to cause its inactivation and degradation | Juvenile hemochromatosis161 |
| HFE (HFE) [HLA-H] | 6 (26 Mb) | Regulates hepcidin expression, mechanism uncertain; interacts with TFR1 and TFR2; may participate in a signaling complex with TFR2 | Classic HLA-linked hemochromatosis121 |
| Mitoferrin (SLC25A37) | 8 (23 Mb) | Mitochondrial iron import | Erythropoietic protoporphyria17 |
| Transferrin (TF) | 3 (135 Mb) | Plasma iron binding protein, ligand for TFR1 and TFR2 | Atransferrinemia (hypotransferrinemia)178 |
| Transferrin receptor-2 (TFR2) | 7 (100 Mb) | Sensor for diferric transferrin; regulates hepcidin expression; may participate in a signaling complex with HFE | Hemochromatosis213 |