HFE


homeostatic iron regulator


ENTREZID: 3077 | Type: Protein Coding | Map: 6p22.2

OMIM: 614193 | 613609 | 612635 | 235200 | 176200 | 176100 | 104300


Summary Entrez
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]