Gene Symbol | HFE |
Entrez Gene ID | 3077 |
Full Name | hemochromatosis |
Synonyms | HFE1,HH,HLA-H,MVCD7,TFQTL2 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Hemochromatosis, 235200 (3); {Microvascular complications of diabetes 7}, 612635 (3); {Porphyria variegata, susceptibility to}, 176200 (3); {Porphyria cutanea tarda, susceptibility to}, 176100 (3); {Alzheimer disease, susceptibility to}, 104300 (3); [Transferrin serum level QTL2], 614193 (3) |