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Studies indicate that hemochromatosis protein (HFE) variants can positively influence the immune system and might even diminish the risk of developing diseases such as amyotrophic lateral sclerosis, Alzheimer's disease, Parkinson's disease, and atherosclerosis.
unreported iron metabolism-related genes in non-classic hereditary hemochromatosis patients that were predicted to be potentially pathogenic were three novel mutations in TFR2 (zeige TFR2 Proteine) [two missense (p.Leu750Pro and p.Ala777Val) and one intronic splicing mutation (c.967-1G>C)], one missense mutation in HFE (p.Tyr230Cys), and one mutation in the 5'-UTR of HAMP (zeige HAMP Proteine) gene (c.-25G>A)
GNPAT (zeige GNPAT Proteine) p.D519G is strongly associated with markedly increased iron stores in p.C282Y homozygotes after correction for age, iron-related variables, and alcohol consumption
HFE p.C282Y homozygosity is significantly associated with lymphocyte and basophil counts
TFR2 (zeige TFR2 Proteine) expression altered within 4h of HAMP (zeige HAMP Proteine) treatment, while HFE expression altered later at 24h and 48h, suggesting that TFR2 (zeige TFR2 Proteine) may function prior to HFE in HAMP (zeige HAMP Proteine) regulation.
Studied association of HFE mutations on iron status among Indian beta Thalassemia carriers . A total of 100 beta thalassemia traits (BTT) with 100 normal individuals were screened for the C282Y and H63D mutations using PCR-RFLP.
Homozygosity for the HFE C282Y mutation appeared to be a strong predictor of increased iron stores and was predominantly observed in whites. The findings are consistent with the HFE C282Y mutation providing a protective effect from iron deficiency. [Review]
The goal of this study was to evaluate the impact of EHR point-of-care tools on medical record documentation of genetic testing care processes for the common HFE mutations, a thrombophilia panel, and HLA-B27.
HFE mRNA was independently elevated by extracellular and intracellular iron-excess. Thus, it may be involved in sensing both, extracellular and intracellular iron.
Diagnostic value of targeted next-generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele.
H67D mutation in HFE gene is associated with decreased susceptibility to manganese accumulation in the brain and neurotoxicity induced by inhaled manganese.
the aging HFE KO mouse on an SV129 genetic background has the potential to facilitate the investigation of cardiomyopathy induced by HFE gene mutations.
unlike homozygous Hfe deletion, heterozygous gene deletion disrupted glucose homeostasis but did not affect lipid metabolism or liver injury.
Single Hjv (zeige HFE2 Proteine)(-)/(-) and double Hfe(-)/(-)Hjv (zeige HFE2 Proteine)(-)/(-) mice exhibit comparable iron overload. Hfe and Hjv (zeige HFE2 Proteine) regulate hepcidin (zeige HAMP Proteine) via the same pathway.
Results show that HFE requires HJV (zeige HFE2 Proteine) to activate downstream signal transduction pathways for hepcidin (zeige HAMP Proteine) regulation.
Alterations in cholesterol metabolism associated with expression of H63D-HFE may contribute to the development of AD.
results provide evidence that HFE induces hepcidin (zeige HAMP Proteine) expression via the BMP pathway: HFE interacts with ALK3 (zeige BMPR1A Proteine) to stabilize ALK3 (zeige BMPR1A Proteine) protein and increase ALK3 (zeige BMPR1A Proteine) expression at the cell surface.
These results support in vivo studies which suggest that Hfe and Tfr2 (zeige TFR2 Proteine) can independently regulate hepcidin (zeige HAMP Proteine).
A mutation in the HFE gene is associated with altered brain iron profiles and increased oxidative stress in mice.
Hfe-knockout mice did not have higher brain iron levels than wildtype controls.
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.
MHC class I-like protein HFE
, hereditary hemochromatosis protein
, hereditary hemochromatosis protein HLA-H
, high Fe
, hereditary hemochromatosis protein homolog
, hemochromatosis protein