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Figure 1 | Human Genomics

Figure 1

From: Hyperferritinaemia-cataract syndrome: Worldwide mutations and phenotype of an increasingly diagnosed genetic disorder

Figure 1

The role of ferritin in iron homeostasis. A virtual cell is shown, demonstrating the major cellular functions of iron uptake (TfR1 and -2, DMT1), export (ferroportin), storage (ferritin) and utilisation (eg haem synthesis). The LIP represents a chelated form of cytosolic iron that undergoes redistribution but also toxic side reactions. Hepatic hepcidin - the major systemic regulator - blocks iron export via ferroportin, while cytoplasmic IRPs coordinate cellular iron homeostasis by regulating proteins such as TfR1 and ferritin at the post-transcriptional level. Ferritin is the major iron storage protein and is mainly localised in hepatocytes and cells of the reticuloendothelial system. Connections between cellular and systemic iron metabolism are highlighted by hatched grey boxes. TfR1, transferrin receptor 1. DMT1, divalent metal transporter 1. LIP, labile iron pool. IRP, iron-regulatory protein.

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Human Genomics

ISSN: 1479-7364