Recombinant Human Hereditary hemochromatosis protein (HFE), partial

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Code CSB-EP653744HU
MSDS
Size US$306
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  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
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Product Details

Purity
Greater than 85% as determined by SDS-PAGE.
Target Names
HFE
Uniprot No.
Research Area
Metabolism
Alternative Names
dJ221C16.10.1; Hemochromatosis; Hemochromatosis protein; Hereditary hemochromatosis protein; Hereditary hemochromatosis protein HLA H; HFE 1; HFE; HFE_HUMAN; HFE1; HH; High Fe; HLA H; HLA-H; HLAH; MGC:150812; MGC10379; MGC103790; MHC class I like protein HFE; MVCD7; TFQTL2
Species
Homo sapiens (Human)
Source
E.coli
Expression Region
23-306aa
Target Protein Sequence
RLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLV
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight
40.2 kDa
Protein Length
Extracellular Domain
Tag Info
N-terminal 10xHis-tagged and C-terminal Myc-tagged
Form
Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer
If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
3-7 business days
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA
Please contact us to get it.
Description

Amino acids 23-306 constitute the expression domain of recombinant Human HFE. The calculated molecular weight for this HFE protein is 40.2 kDa. The HFE protein was expressed in e.coli. Fusion of the N-terminal 10xHis tag and C-terminal Myc tag into the HFE encoding gene fragment was conducted, allowing for easier detection and purification of the HFE protein in subsequent stages.

The human hereditary hemochromatosis protein (HFE) is essential for iron homeostasis regulation. HFE interacts with the transferrin receptor, influencing cellular iron uptake. Mutations in HFE are associated with hereditary hemochromatosis, a disorder characterized by excessive iron absorption. In hematology, HFE research contributes to understanding iron metabolism and hemochromatosis pathogenesis. Additionally, HFE's role in modulating immune responses suggests implications in autoimmune diseases. In genetics, studying HFE variants aids in population genetics and disease risk assessment. Investigating HFE provides insights into iron-related disorders, immune function, and genetic susceptibility, offering potential applications in therapeutic strategies targeting iron dysregulation and genetic screening for hemochromatosis risk.

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Target Background

Function
Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.
Gene References into Functions
  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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Involvement in disease
Hemochromatosis 1 (HFE1); Variegate porphyria (VP); Microvascular complications of diabetes 7 (MVCD7)
Subcellular Location
Cell membrane; Single-pass type I membrane protein.
Protein Families
MHC class I family
Tissue Specificity
Expressed in all tissues tested except brain.
Database Links

HGNC: 4886

OMIM: 176200

KEGG: hsa:3077

STRING: 9606.ENSP00000417404

UniGene: Hs.233325

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