FTH1
Description
The FTH1 (ferritin heavy chain 1) is a protein-coding gene located on chromosome 11.
FTH1, located on chromosome 11, encodes the heavy subunit of ferritin, a vital protein responsible for storing iron within cells. Ferritin comprises 24 subunits, a mix of heavy and light chains, with variations in their composition potentially affecting iron uptake and release in different tissues. FTH1's primary function is to store iron in a safe and soluble form, preventing toxicity. Defects in FTH1 are linked to several neurodegenerative diseases. Multiple pseudogenes exist for this gene, and alternative splicing has been observed but not fully understood. FTH1 interacts with the ferritin light chain, forming the complete ferritin structure. Mutations in FTH1 can cause Hemochromatosis type 5.
FTH1 plays a crucial role in iron storage and homeostasis. It stores iron in a soluble, non-toxic, and readily accessible form. FTH1 possesses ferroxidase activity, oxidizing ferrous iron into ferric hydroxides, which are then stored within the protein. This process is essential for maintaining iron levels in cells. FTH1 also participates in iron delivery to cells, contributing to iron uptake in developing kidney capsule cells.
FTH1 is also known as FHC, FTH, FTHL6, HFE5, NBIA9, PIG15, PLIF.
