HFE Proteine (HFE)

Bezeichnung:
Hemochromatosis Proteine (HFE)
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Synonyme:
HFE1, HH, HLA-H, MR2, MVCD7, TFQTL2
alle Proteine anzeigen Gen GeneID UniProt
HFE 3077 Q30201
HFE 29199 O35799
HFE 15216 P70387

Weitere Synonyme anzeigen

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Am meisten referenzierte HFE Proteine

  1. Human HFE Protein expressed in Escherichia coli (E. coli) - ABIN1098722 : Feder, Penny, Irrinki, Lee, Lebrón, Watson, Tsuchihashi, Sigal, Bjorkman, Schatzman: The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. in Proceedings of the National Academy of Sciences of the United States of America 1998 (PubMed)
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Weitere Proteine zu HFE Interaktionspartnern

Human Hemochromatosis (HFE) Interaktionspartner

  1. No significant differences in frequencies of the alleles with mutations in coding regions of the HFE gene (C282Y, H63D, and S65C) were detected between the analyzed patients (with stomach cancer, metabolic syndrome, fatty liver disease, or type 2 diabetes mellitus) and the control Caucasoid sample

  2. these findings support a larger scale screening for HERPUD1 (zeige HERPUD1 Proteine) R50H and HFE H63D variants in the sub-group of 1ATD patients developing significant chronic hepatic injuries (hepatomegaly, chronic cholestasis, elevated liver enzymes) and at risk developing liver cirrhosis.

  3. There was a time-dependent improvement in the interpretation of the clinical significance of HFE genotypes. HFE molecular genetic testing, performed by non-US Food and Drug Administration-approved laboratory-developed tests, demonstrated excellent accuracy, sensitivity, and specificity. Clinical interpretations were more heterogeneous, probably owing to the low clinical penetrance of some common HFE genotypes

  4. comparison between the 2 methods by Fleiss' kappa analysis showed that 5' nuclease (zeige DCLRE1C Proteine) assay identified the H63D and S65C haplotype as well as the reference method in all 153 tested samples. Our results showed that novel method probe-based real-time PCR were capable to detect 2 adjacent polymorphisms without errors in genotyping

  5. We discuss herein the puzzling distribution of the two major hemochromatosis HFE mutations associated with hereditary hemochromatosis. Thus, one can observe a low frequency of C282Y and, in contrast, one of the highest European frequencies of H63D in the Basque population.

  6. The results show an association between presence of one or both H63D alleles and development of BIP (zeige GDF10 Proteine) in testicular cancer patients treated with bleomycin combination chemotherapy.

  7. C282Y but not H63D mutation of HFE was related to elevated cancer risk.

  8. Rare HFE variants are therefore the most frequent cause of hemochromatosis in non-C282Y homozygote HFE patients

  9. in Greek population cohort the frequencies of polymorphism were as follows: rs1800562: GG (wildtype)=97.0%, GA=1.5%,AA=1.5%; rs1799945: CC (wildtype)=74.4%, CG=23.4%, GG=2.2%; rs1800730:AA (wildtype)=98.1%, AT=1.5% and TT=0.4%. No association between the HFE polymorphisms rs1800562, rs1799945 and rs1800730 and gender could be established.

  10. In conclusion, our metaanalysis showed a marginal higher prevalence of H63D variant of the HFE gene in alcoholic liver disease but did not support an increased risk of C282Y mutation.

Mouse (Murine) Hemochromatosis (HFE) Interaktionspartner

  1. the aging HFE KO mouse on an SV129 genetic background has the potential to facilitate the investigation of cardiomyopathy induced by HFE gene mutations.

  2. unlike homozygous Hfe deletion, heterozygous gene deletion disrupted glucose homeostasis but did not affect lipid metabolism or liver injury.

  3. 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.

  4. Results show that HFE requires HJV (zeige HFE2 Proteine) to activate downstream signal transduction pathways for hepcidin (zeige HAMP Proteine) regulation.

  5. Alterations in cholesterol metabolism associated with expression of H63D-HFE may contribute to the development of AD.

  6. 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.

  7. These results support in vivo studies which suggest that Hfe and Tfr2 (zeige TFR2 Proteine) can independently regulate hepcidin (zeige HAMP Proteine).

  8. A mutation in the HFE gene is associated with altered brain iron profiles and increased oxidative stress in mice.

  9. Hfe-knockout mice did not have higher brain iron levels than wildtype controls.

  10. Hfe(-/-) retinal pigment epithelial cells exhibited slower senescence rate and higher survivin (zeige BIRC5 Proteine) expression than wild type cells. Hfe(-/-) cells migrated faster and showed greater glucose uptake and increased expression of GLUTs.

HFE Protein Überblick

Protein Überblick

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.

Alternative names and synonyms associated with HFE

  • hemochromatosis (HFE)
  • hemochromatosis (Hfe)
  • HFE1 Protein
  • HH Protein
  • HLA-H Protein
  • MR2 Protein
  • MVCD7 Protein
  • TFQTL2 Protein

Bezeichner auf Proteinebene für Hemochromatosis Proteine (HFE)

MHC class I-like protein HFE , hereditary hemochromatosis protein , hereditary hemochromatosis protein HLA-H , high Fe , RT1-CAFE , hereditary hemochromatosis protein homolog , hemochromatosis protein

GENE ID SPEZIES
3077 Homo sapiens
497622 Bos taurus
29199 Rattus norvegicus
15216 Mus musculus
462489 Pan troglodytes
100688951 Canis lupus familiaris
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