Recombinant Human Hereditary hemochromatosis protein (HFE), partial

1. The Ala176Val mutation may have a possible role on the cause of hemochromatosis in a Japanese case PMID: 11446670
2. mutational analysis of the transferrin receptor reveals overlapping HFE and transferrin binding sites PMID: 11800564
3. genotype and allele frequencies between neonates and referred patients for HFE molecular analysis PMID: 11809727
4. Association between MHC class I gene HFE polymorphisms and longevity PMID: 11857056
5. HFE gene implicated in this disorder has been identified on chromosome 6. the most prevalent mutation is a point mutation(histidine to aspartic acid)in iron overload has been controversial. PMID: 11869934
6. A previously undescribed nonsense mutation of the HFE gene PMID: 11903354
7. Distribution of HFE C282Y and H63D mutations in the Balearic Islands (NE Spain). PMID: 11903355
8. results suggest that wild-type HFE negatively modulates the endocytic uptake of transferrin PMID: 11940510
9. Frequency of the S65C mutation of HFE and iron overload in subjects heterozygous for C282Y. PMID: 11943417
10. REVIEW:Characteristics of the C282Y mutation in childhood ALL, in contrast to other cancers, is male-specific, lacks a gene-dosage effect, and exhibits associations suggesting the involvement of another HLA-linked gene in leukemia susceptibility. PMID: 12002748
11. Long term survival is excellent in C282Y homozygotes for the C282Y mutation of the hemochromatosis gene diagnosed and treated before the development of cirrhosis and diabetes PMID: 12045778
12. Individuals with mutations in the HFE gene show very few hemochromatosis-related symptoms. PMID: 12059121
13. The tighter association of the -467 polymorphism with the C282Y mutation is consistent with other data that suggest that the C282Y mutation has occurred relatively recently and that the H63D mutation is considerably older. PMID: 12064915
14. HFE mutations do not confer an additional risk of hepatic fibrosis in patients with nonalcoholic steatohepatitis PMID: 12085358
15. possession of the HFE gene 282Tyr allele may offer some protection against the development of Parkinson Disease. PMID: 12098643
16. polymorphism and its relation to type 2 diabetes mellitus in the Czech population PMID: 12148086
17. When combined with the C282Y mutation, the S65C mutation is associated with an increased risk of hemochromatosis. PMID: 12180078
18. HFE has two mutually exclusive functions, binding to TfR1 in competition with Tf, or inhibition of iron release from macrophages. PMID: 12429850
19. HFE mutations more common in patients than controls, and advanced degrees of fibrosis developed at younger ages with C282Y mutation. Patients with C282Y had higher mean hepatic iron concentrations, hepatic iron indices, and hepatic fibrosis scores. PMID: 12445428
20. These results suggest that the apparent iron-deficient phenotype elicited by haemochromatosis protein (HFE) is not linked to beta(2)microglobulin insufficiency. PMID: 12464008
21. an increased risk of osteoarthritis among individuals who are heterozygous for the C282Y HFE mutation. PMID: 12508400
22. Genotyping of the C282Y and H63D substitutions in the HFE gene provides a satisfactory marker since these genotypes are associated with ~90% of herditary hemochromatosis. PMID: 12512743
23. Subjects with any HFE gene mutation were more likely to have colon cancer than subjects with no HFE gene mutations. PMID: 12529348
24. The presence of HFE mutations is independently associated with iron loading and advanced fibrosis in patients with compensated liver disease from chronic hepatitis C, especially after controlling for duration of disease. PMID: 12557137
25. C282Y or H63D heterozygosity is an independent risk factor for liver fibrosis and cirrhosis in HCV infected individuals. Screening for HFE mutations should be considered in HCV infection. PMID: 12586300
26. Results suggest that the H63D mutation in the hereditary hemochromatosis HFE gene may play a role in the pathogenesis of late onset type 2 diabetes. PMID: 12601293
27. In patients with rheumatoid arthritis, 2/24 (8.34%) were found to be positive for the C282Y mutation in the case of heterozygosis compared with 3/24 (12.5%) of patients with spondylarthritis. PMID: 12635863
28. The presence of TfR2 and absence of TfR1 suggests that HFE may serve a different function in platelets compared with the other HFE-positive cell types. PMID: 12656741
29. Interacts with transferrin receptors in endosomes PMID: 12667138
30. HFE C282Y and H63D are determinants of iron parameters in the elderly and will be effective in detecting individuals at high risk of hemochromatosis. PMID: 12673276
31. HFE and APOE genotypes are different between Alzheimer's disease patients, high cognitive impairment and low cognitive impairment PMID: 12707938
32. this study does not support the suggestion that H63D mutations may anticipate sporadic AD clinical presentation in susceptible individuals. PMID: 12714262
33. trend for an increased frequency of H63D allele in centenarian women PMID: 12714263
34. In a population of 1279 Caucasians with angiographically confirmed coronary status, there is no evidence of an association between the C282Y mutation in the haemochromatosis gene and prevalence of coronary artery disease and myocardial infarction PMID: 12746412
35. The mild iron overload associated with heterozygosity for C282Y HFE mutation confers susceptibility to nonalcoholic fatty liver disease PMID: 12779071
36. We see no evidence for over-representation of iron loading HFE alleles in type 2 diabetes mellitus PMID: 12783844
37. study performed in two samples of genetically homogeneous patients and controls does not support the suggestion that HFE mutations may be associated with acute myocardial infarction in susceptible individuals PMID: 12850485
38. REVIEW: C282Y mutant gene product failed to associate with 2-microglobulin and significantly reduced cell surface expression of the HFE-2m complex, thereby affecting the interaction with TfR and its interaction with transferrin. PMID: 9869618
39. 871 healthy unrelated subjects in Poland were collected to assess the relevant frequencies. Each subject was genotyped for the C282Y and H63D mutations using a PCR-based protocol PMID: 11386022
40. Overall, this increased understanding of the role of HFE in the immune response sets the stage for better treatment and management of hereditary hemochromatosis and other iron-related diseases, as well as of the immune defects related to this condition. PMID: 28474781
41. Results show that cystic fibrosis (CF) patients who carry a HFE gene mutation, particularly the C282Y substitution, demonstrate accelerated lung function and worsening of disease suggesting that HFE C282Y mutation is associated with CF severity and progression. PMID: 30291871
42. This study showed that the Iron related hemochromatosis (HFE) gene mutations in Friedreich Ataxia patients. PMID: 27814974
43. p.Cys282Tyr homozygous women are diagnosed HFE Hemochromatosis at a later age than men, and thus corroborates the existence of a difference in the expression of this genotype between men and women. Nevertheless, these results do not confirm the protective effect typically attributed to pregnancy to explain the slower iron accumulation in women. PMID: 29454332
44. HFE could be a potential susceptibility gene for isolated recurrent aphthous oral ulcers PMID: 28950260
45. HFE mutation is associated with a lower level of aerobic capacity, even in the absence of iron accumulation. PMID: 29362711
46. Three single nucleotide polymorphisms associated with iron regulation were genotyped in multiple sclerosis : two in the human hereditary hemochromatosis protein gene HFE: rs1800562 (C282Y mutation) and rs1799945 (H63D mutation), as well as the rs1049296 SNP in the transferrin gene (C2 mutation). We only observed a higher prevalence of TF-C2 in multiple sclerosis patients PMID: 29201641
47. The HFE gene including both coding and boundary intronic regions were sequenced and polymorphisms were identified in 304 Brazilian individuals, encompassing healthy individuals and patients exhibiting hereditary or acquired iron overload. PMID: 28727322
48. homozygosity for the HLA-A*03 allele significantly increases the risk of excessive iron loading in Norwegian p.C282Y homozygous male patients. PMID: 28678636
49. genetic association studies in cohort of infants in Spain: Data suggest that serum hepcidin levels increase in infants during first year of life and are positively associated with iron status only in infants with wild-type HFE gene (not in infants with genetic polymorphisms C282Y, H63D, and S65C). PMID: 29404719
50. HFE stability is pH-dependent. PMID: 27174123

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HGNC: 4886

OMIM: 176200

KEGG: hsa:3077

STRING: 9606.ENSP00000417404

UniGene: Hs.233325