HFE
LOCUS ID3077
GENE_SYMBOLHFE
GENE NAMEhemochromatosis
SYNONYMNSHH, HFE1, HLA-H, MVCD7, TFQTL2
CHROMOSOME6
HOMOLOGENE ID88330
microRNAsNANA
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. additional variants have been found but their full-length ture has not been determined. [provided by RefSeq, Jul 2008]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. 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
Retinopathy1. 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