| HFE |
| LOCUS ID | 3077 | |||||||||||||
| GENE_SYMBOL | HFE | |||||||||||||
| GENE NAME | hemochromatosis | |||||||||||||
| SYNONYMNS | HH, HFE1, HLA-H, MVCD7, TFQTL2 | |||||||||||||
| CHROMOSOME | 6 | |||||||||||||
| HOMOLOGENE ID | 88330 |
| microRNAs | NA | NA |
| 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 altertively spliced variants have been described for this gene |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Nephropathy | 1. patients with clinical hemochromatosis, the frequency of diabetes ranges from 20 to 50%, and the heterozygosity for the C282Y mutation in the HFE gene might be associated with an increased risk for diabetes. There are also some reports that suggest that iron overload might cause diabetic nephropathy. | 11423500 |
| Retinopathy | 1. Logistic regression analysis revealed that the C282Y mutation in HFE gene was a significant independent risk factor for the development of proliferative diabetic retinopathy (PDR) (OR=6.1, 95% CI=1.2-30.5; p=0.027) | 14618419 |