HFE2 Proteine (HFE2)

Hemochromatosis Type 2 (Juvenile) Proteine (HFE2)
Auf www.antikoerper-online.de finden Sie aktuell 14 Hemochromatosis Type 2 (Juvenile) (HFE2) Proteine von 6 unterschiedlichen Herstellern. Zusätzlich bieten wir Ihnen HFE2 Antikörper (100) und HFE2 Kits (64) und viele weitere Produktgruppen zu diesem Protein an. Insgesamt sind aktuell 186 HFE2 Produkte verfügbar.
2310035L15Rik, 5230400G09Rik, AI414844, AI789733, DKFZp468F2322, DL-M, hemojuvelin, HFE2, HFE2A, HJV, JH, Rgmc
alle Proteine anzeigen Gen GeneID UniProt
HFE2 148738 Q6ZVN8
HFE2 310681  
HFE2 69585 Q7TQ32

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Am meisten referenzierte HFE2 Proteine

  1. Cynomolgus HFE2 Protein expressed in Baculovirus infected Insect Cells - ABIN2009785 : Babitt, Huang, Wrighting, Xia, Sidis, Samad, Campagna, Chung, Schneyer, Woolf, Andrews, Lin: Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. in Nature genetics 2006 (PubMed)

Weitere Proteine zu HFE2 Interaktionspartnern

Human Hemochromatosis Type 2 (Juvenile) (HFE2) Interaktionspartner

  1. A novel homozygous mutation in HJV gene identified in an Arab patient with juvenile hemochromatosis (zeige HFE Proteine) and hepatocellular carcinoma.

  2. study shows that patients with CRA (zeige MTMR11 Proteine) had high expression of BMP6 (zeige BMP6 Proteine) and hepcidin (zeige HAMP Proteine) and low expression of s-HJV. BMP6 (zeige BMP6 Proteine) was found to be negatively correlated with s-HJV; both regulate hepcidin (zeige HAMP Proteine) expression and play important roles in the development of anemia.

  3. HJV levels are low in NAFLD and even lower in iron overloaded NAFLD.

  4. Data show that transmembrane serine protease (zeige F2 Proteine) TMPRSS6 (zeige TMPRSS6 Proteine) cleaves both the heterodimeric and the full-length mutant hemojuvelin (m-HJV).

  5. Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy.

  6. The study demonstrates that the two upstream open reading frames (with 28 and 19 codons) present in the 5' UTR of the human HJV mRNA have the ability to significantly decrease translational efficiency under normal conditions.

  7. Case Reports: juvenile hemochromatosis (zeige HFE Proteine) associated with simple heterozygosity for novel HJV mutations and unknown genetic factors.

  8. suggesting that the homozygous mutation p.C321X in HJV is causative in the patient with hemochromatosis (zeige HFE Proteine)

  9. In dialysis patients, hemojuvelin levels are significantly increased but obesity does not have an additional impact.

  10. Membrane bound hemojuvelin (HJV) is associated with decreasing total kidney iron, secreting hepcidin (zeige HAMP Proteine), and promoting the degradation of ferroportin (zeige SLC40A1 Proteine) during acute kidney injury, whereas soluble HJV does the opposite.

Mouse (Murine) Hemochromatosis Type 2 (Juvenile) (HFE2) Interaktionspartner

  1. Hjv (--) and Hfe (zeige HFE Proteine) (C282YC282Y) transgenic mice displayed enhanced colonization of deep tissues by Yersinia pseudotuberculosis following oral inoculation, recapitulating enhanced susceptibility of humans with hemochromatosis (zeige HFE Proteine) to disseminated infection with enteropathogenic Yersinia.

  2. The data demonstrate that endothelial cells are the predominant source of BMP6 (zeige BMP6 Proteine) in the liver and support a model in which endothelial cells BMP6 (zeige BMP6 Proteine) has paracrine actions on hepatocyte hemojuvelin to regulate hepcidin (zeige HAMP Proteine) transcription and maintain systemic iron homeostasis.

  3. The minor variant of the HJV polymorphic site rs16827043 is a significant factor associated with hypertension among 50 year-old individuals compared with the AA genotype carriers. For the other polymorphic variant rs7536827, association with hypertension was found only among normal or slightly overweight A-allele carriers. In conclusion, HJV genetic variants were associated with essential hypertension in Finnish subjects.

  4. Results indicate that an efficient induction of hepcidin (zeige HAMP Proteine) expression by hemojuvelin (HJV) requires its interaction with neogenin (zeige NEO1 Proteine).

  5. Single Hjv(-)/(-) and double Hfe (zeige HFE Proteine)(-)/(-)Hjv(-)/(-) mice exhibit comparable iron overload. Hfe (zeige HFE Proteine) and Hjv regulate hepcidin (zeige HAMP Proteine) via the same pathway.

  6. Results show that HFE (zeige HFE Proteine) may depend on HJV for hepcidin (zeige HAMP Proteine) regulation. Residual hepcidin (zeige HAMP Proteine) in the absence of HFE (zeige HFE Proteine) suggests either the presence of an unknown regulator synergistic with HJV or that HJV is sufficient to maintain basal levels of hepcidin (zeige HAMP Proteine).

  7. Parenchymal hepatic iron overload does not suffice to trigger progression of liver steatosis to steatohepatitis or fibrosis in Hjv knockout C57BL/6 mice.

  8. Hjv is not required for sensing of body iron levels and merely functions as an enhancer for iron signaling to hepcidin (zeige HAMP Proteine).

  9. Deletion of Hjv in mice leads to abnormal retinal angiogenesis/vasculogenesis, with proliferation of new, leaky blood vessels in the vitreous.

  10. Loss of matriptase-2 (zeige TMPRSS6 Proteine) increases bone morphogenetic protein-dependent signaling, while paradoxically decreasing liver hemojuvelin protein content.

HFE2 Protein Überblick

Protein Überblick

The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30.

Alternative names and synonyms associated with HFE2

  • hemochromatosis type 2 (juvenile) (HFE2)
  • hemochromatosis type 2 (juvenile) (Hfe2)
  • hemochromatosis type 2 (juvenile) (human homolog) (Hfe2)
  • hemojuvelin (LOC100355707)
  • 2310035L15Rik Protein
  • 5230400G09Rik Protein
  • AI414844 Protein
  • AI789733 Protein
  • DKFZp468F2322 Protein
  • DL-M Protein
  • hemojuvelin Protein
  • HFE2 Protein
  • HFE2A Protein
  • HJV Protein
  • JH Protein
  • Rgmc Protein

Bezeichner auf Proteinebene für HFE2

hemochromatosis type 2 (juvenile) , RGM domain family member C , haemojuvelin , hemochromatosis type 2 protein , hemojuvelin , repulsive guidance molecule c , hemochromatosis type 2 (juvenile) (human homolog) , hemochromatosis type 2 protein homolog , repulsive guidance molecule C

475830 Canis lupus familiaris
698805 Macaca mulatta
743630 Pan troglodytes
746490 Pan troglodytes
100174250 Pongo abelii
100594831 Nomascus leucogenys
148738 Homo sapiens
310681 Rattus norvegicus
100733082 Cavia porcellus
100155778 Sus scrofa
100335368 Bos taurus
101114997 Ovis aries
69585 Mus musculus
100355707 Oryctolagus cuniculus
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