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The protein encoded by HFE is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). Additionally we are shipping HFE Antibodies (72) and HFE Proteins (15) and many more products for this protein.
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In this study, HFE p.282Y variant (rs1800562 A allele) was significantly associated with the risk of varicose veins (OR 1.79, 95 % CI = 1.11-2.89, P = 0.02).
Statistically significant differences were observed for genotype distribution of C282Y and H63D between the general population and the patients diagnosed with hereditary hemochromatosis.
There are no relationship between these indexes and HFE gene C282Y mutation and either nonalcoholic fatty liver disease as a complication of diabetes.
H63D HFE genetic carriers presented higher blood iron than wild-type probands.
Data suggest that hereditary hemochromatosis (HH) due to mutations in HFE may be relatively asymptomatic in childhood as illustrated by diagnosis of HH in 10-year-old twin boys during investigation of cause of short stature/growth retardation in one of the boys; genetic testing revealed C282Y/H63D compound heterozygosity in HFE GENE. [CASE REPORT]
Results suggest that HFE H63D polymorphism could represent a disease-modifying gene in frontotemporal lobar degeneration, fostering iron deposition in the basal ganglia
performed molecular dynamics simulation for 40 ns to see the effect of GdmCl on the structural stability of HFE. A well defined correlation was established between in vitro and in silico studies
Hypothesized that the C282Y allele of hemochromatosis protein was an adaptation of migrating farmers from the Middle East to the novel environment of chilly and damp (show AMPH ELISA Kits) Europe; studied C282Y allele frequencies & climatic data; findings indicate that geographic cline for C282Y frequency in Europe increases as average temperatures decrease below 16 degrees C.
Study shows that HFE is expressed in choriocarcinoma tumor cells as well as within cytotrophoblastic elements of cystic trophoblastic tumor and intermediate trophoblast of an exaggerated placenta site supporting HFE as a viable marker for trophoblast progenitors.
Report risk factors for insulin (show INS ELISA Kits) resistance, metabolic syndrome and diabetes mellitus in HFE C282Y homozygotes.
unlike homozygous Hfe deletion, heterozygous gene deletion disrupted glucose homeostasis but did not affect lipid metabolism or liver injury.
Single Hjv (show HFE2 ELISA Kits)(-)/(-) and double Hfe(-)/(-)Hjv (show HFE2 ELISA Kits)(-)/(-) mice exhibit comparable iron overload. Hfe and Hjv (show HFE2 ELISA Kits) regulate hepcidin (show HAMP ELISA Kits) via the same pathway.
Results show that HFE requires HJV (show HFE2 ELISA Kits) to activate downstream signal transduction pathways for hepcidin (show HAMP ELISA Kits) 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 (show HAMP ELISA Kits) expression via the BMP pathway: HFE interacts with ALK3 (show BMPR1A ELISA Kits) to stabilize ALK3 (show BMPR1A ELISA Kits) protein and increase ALK3 (show BMPR1A ELISA Kits) expression at the cell surface.
These results support in vivo studies which suggest that Hfe and Tfr2 (show TFR2 ELISA Kits) can independently regulate hepcidin (show HAMP ELISA Kits).
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.
Hfe(-/-) retinal pigment epithelial cells exhibited slower senescence rate and higher survivin (show BIRC5 ELISA Kits) expression than wild type cells. Hfe(-/-) cells migrated faster and showed greater glucose uptake and increased expression of GLUTs.
Findings suggest a novel role for Hfe and/or imbalanced iron homeostasis in the regulation of the inflammatory response in the lung and hereditary hemochromatosis.
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