Entrez gene ID | | 3077 |
Official gene symbol | | HFE |
Full name | | hemochromatosis |
Aliases | | ,HFE1,HH,HLA-H,MGC103790,MVCD7,dJ221C16.10.1, |
Gene summary | | 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] |
Location | | Chromosome: 6 Locus: 6p21.3 |
Gene position | | 26087448 - 26097059 Map Viewer |
Gene orientation | | plus |
Gene size | | 9612 bp |
Gene sequence |
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OMIM ID | | 613609 |
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