Human ferritin genes and ferritin gene mutations
| Gene or mutation . | Chromosomal location . | Mutation effect . | Reference no. . |
|---|---|---|---|
| Cytoplasmic ferritin L | 19q13.3 | — | |
| Ferritin L IRE mutations (13 different mutations known) | Hyperferritinemia/cataract | 24, 193, 194, 195, 196, 197, 198, 199, 200, 201, 202, 203 | |
| Ferritin L non-IRE mutations | Neuroferritinopathy | 64 | |
| Cytoplasmic ferritin H | 11q12-q13 | — | |
| Ferritin H IRE mutations | Iron overload | 63 | |
| Mitochondrial ferritin | 5q23.1 | — | 14 |
| Gene or mutation . | Chromosomal location . | Mutation effect . | Reference no. . |
|---|---|---|---|
| Cytoplasmic ferritin L | 19q13.3 | — | |
| Ferritin L IRE mutations (13 different mutations known) | Hyperferritinemia/cataract | 24, 193, 194, 195, 196, 197, 198, 199, 200, 201, 202, 203 | |
| Ferritin L non-IRE mutations | Neuroferritinopathy | 64 | |
| Cytoplasmic ferritin H | 11q12-q13 | — | |
| Ferritin H IRE mutations | Iron overload | 63 | |
| Mitochondrial ferritin | 5q23.1 | — | 14 |
IRE indicates iron responsive element.