FTH1

FTH1 or Ferritin Heavy Chain 1 is a protein that in humans is encoded by the FTH1 gene. It is a ubiquitous and highly conserved protein that plays a crucial role in iron homeostasis.

Function

Ferritin is a major intracellular iron storage protein in both prokaryotes and eukaryotes, keeping iron in a soluble and non-toxic form. Ferritin that is not combined with iron is called apoferritin. FTH1 is the heavy chain subunit of ferritin. The ferritin molecule is composed of 24 subunits of heavy and light chain. The ratio of the two chain types varies depending on the tissue and cell type, reflecting the differing metabolic demands for iron in different tissues.

Clinical Significance

Mutations in the FTH1 gene are associated with several disorders, including iron overload and neuroferritinopathy, a neurodegenerative disease characterized by the accumulation of iron in the brain.

Structure

The FTH1 protein is a 21 kDa protein composed of 183 amino acids. The protein is arranged in a 24-mer complex that forms a hollow sphere, allowing for the storage of up to 4500 iron atoms within the ferritin complex.

See Also

• Ferritin
• Iron overload
• Neuroferritinopathy

References

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