Aliases for HFE Gene
External Ids for HFE Gene
Previous GeneCards Identifiers for HFE Gene
The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for HFE Gene
HFE (Hemochromatosis) is a Protein Coding gene. Diseases associated with HFE include Hemochromatosis and Microvascular Complications Of Diabetes 7. Among its related pathways are Hfe effect on hepcidin production. GO annotations related to this gene include receptor binding and peptide antigen binding. An important paralog of this gene is AZGP1.
UniProtKB/Swiss-Prot for HFE Gene
Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.