Aliases for HFE Gene
External Ids 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 iron metabolism disease and microvascular complications of diabetes 7. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include receptor binding and peptide antigen binding. An important paralog of this gene is MR1.
UniProtKB/Swiss-Prot for HFE Gene
Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.