Examples of some of the genes in which mutations give rise to inherited forms of iron overload including haemochromatosis
| Gene | Previous names | Protein | Chromosome locus | Disease | Mode of inheritance | Key reference(s) |
|---|---|---|---|---|---|---|
| HFE | HLA-H | HFE | 6p21.3–6p22.1 | Haemochromatosis type 1 | Incomplete autosomal recessive | 4 |
| HJV | HFE2 | Hemojuvelin | 1q21 | Juvenile haemochromatosis | Autosomal recessive | 23 |
| HAMP | HEPC | Hepcidin LEAP-1 | 19q13 | Juvenile haemochromatosis | Autosomal recessive | 22 |
| TFR2 | Transferrin receptor 2 | 7q22 | Haemochromatosis type 3 | Autosomal recessive | 19 | |
| SLC40A1 | IREG1, MTP1, SLC11A3, FPN1 | Ferroportin | 2q32 | Haemochromatosis type 4 ferroportin disease | Autosomal dominant | 20, 21 |
| H-ferritin | H-ferritin | 11q13 | Autosomal dominant iron overload | Autosomal dominant | 74 | |
| L-ferritin | L-ferritin | 19q13.3–13.4 | Hyperferritinaemia/cataract syndrome | Autosomal dominant | 75, 76 | |
| CP | Caeruloplasmin | 3q23–24 | Acaeruloplasminaemia | Autosomal recessive | 80, 81 | |
| PANK2 | Pantothenate kinase 2 | 20p12.3–p13 | PKAN | Autosomal recessive | 109 |