Aliases for FTH1 Gene
External Ids for FTH1 Gene
Previous HGNC Symbols for FTH1 Gene
Previous GeneCards Identifiers for FTH1 Gene
This gene encodes the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. Several alternatively spliced transcript variants have been observed, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for FTH1 Gene
FTH1 (Ferritin Heavy Chain 1) is a Protein Coding gene. Diseases associated with FTH1 include Hemochromatosis, Type 5 and Superficial Siderosis Of The Central Nervous System. Among its related pathways are Clathrin derived vesicle budding and Validated targets of C-MYC transcriptional repression. Gene Ontology (GO) annotations related to this gene include iron ion binding and ferroxidase activity. An important paralog of this gene is FTMT.
UniProtKB/Swiss-Prot Summary for FTH1 Gene
Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity).