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  4. Recombinant Human Hereditary hemochromatosis protein (HFE), partial

Recombinant Human Hereditary hemochromatosis protein (HFE), partial

  • 货号：
    CSB-YP653744HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP653744HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 货号：
    CSB-BP653744HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP653744HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    HFE
  • Uniprot No.：
  • 别名：
    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
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    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.
  • 复溶：
    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℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    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.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Hemochromatosis 1 (HFE1); Variegate porphyria (VP); Microvascular complications of diabetes 7 (MVCD7)
  • 亚细胞定位：
    Cell membrane; Single-pass type I membrane protein.
  • 蛋白家族：
    MHC class I family
  • 组织特异性：
    Expressed in all tissues tested except brain.
  • 数据库链接：

    HGNC: 4886

    OMIM: 176200

    KEGG: hsa:3077

    STRING: 9606.ENSP00000417404

    UniGene: Hs.233325