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anti-Human HFE2 Antibodies:
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Human Polyclonal HFE2 Primary Antibody for ELISA, WB - ABIN566853
Lakhal, Schödel, Townsend, Pugh, Ratcliffe, Mole: Regulation of type II transmembrane serine proteinase TMPRSS6 by hypoxia-inducible factors: new link between hypoxia signaling and iron homeostasis. in The Journal of biological chemistry 2011
Of the non-HFE (show HFE Antibodies) forms of iron overload, TFR2 (show TFR2 Antibodies)-, HFE2-, and HAMP (show HAMP Antibodies)-related forms are predicted to be rare, with pathogenic allele frequencies in the range of 0.00007 to 0.0005. Significantly, SLC40A1 (show SLC40A1 Antibodies) variants that have been previously associated with autosomal-dominant ferroportin (show SLC40A1 Antibodies) disease were identified in several populations (pathogenic allele frequency 0.0004), being most prevalent among Africans
A novel homozygous mutation in HJV gene identified in an Arab patient with juvenile hemochromatosis (show HFE Antibodies) and hepatocellular carcinoma.
study shows that patients with CRA (show MTMR11 Antibodies) had high expression of BMP6 (show BMP6 Antibodies) and hepcidin (show HAMP Antibodies) and low expression of s-HJV. BMP6 (show BMP6 Antibodies) was found to be negatively correlated with s-HJV; both regulate hepcidin (show HAMP Antibodies) expression and play important roles in the development of anemia.
HJV levels are low in NAFLD (show TSC2 Antibodies) and even lower in iron overloaded NAFLD (show TSC2 Antibodies).
Data show that transmembrane serine protease (show F2 Antibodies) TMPRSS6 (show TMPRSS6 Antibodies) cleaves both the heterodimeric and the full-length mutant hemojuvelin (m-HJV).
Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy.
The study demonstrates that the two upstream open reading frames (with 28 and 19 codons) present in the 5' UTR (show UTS2R Antibodies) of the human HJV mRNA have the ability to significantly decrease translational efficiency under normal conditions.
Case Reports: juvenile hemochromatosis (show HFE Antibodies) associated with simple heterozygosity for novel HJV mutations and unknown genetic factors.
suggesting that the homozygous mutation p.C321X in HJV is causative in the patient with hemochromatosis (show HFE Antibodies)
In dialysis patients, hemojuvelin levels are significantly increased but obesity does not have an additional impact.
These data suggest that, in Hjv(-/-) females, Bmp6 (show BMP6 Antibodies) can provide a signal adequate to maintain hepcidin (show HAMP Antibodies) to a level sufficient to avoid extrahepatic iron loading.
The results provide support for the interaction between TMPRSS6 (show TMPRSS6 Antibodies) and hemojuvelin in vivo; they also suggest that hemojuvelin could be cleaved by another as yet unknown protease in the absence of functional TMPRSS6 (show TMPRSS6 Antibodies).
Hjv (--) and Hfe (show HFE Antibodies) (C282YC282Y) transgenic mice displayed enhanced colonization of deep tissues by Yersinia pseudotuberculosis following oral inoculation, recapitulating enhanced susceptibility of humans with hemochromatosis (show HFE Antibodies) to disseminated infection with enteropathogenic Yersinia.
The data demonstrate that endothelial cells are the predominant source of BMP6 (show BMP6 Antibodies) in the liver and support a model in which endothelial cells BMP6 (show BMP6 Antibodies) has paracrine actions on hepatocyte hemojuvelin to regulate hepcidin (show HAMP Antibodies) transcription and maintain systemic iron homeostasis.
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.
Results indicate that an efficient induction of hepcidin (show HAMP Antibodies) expression by hemojuvelin (HJV) requires its interaction with neogenin (show NEO1 Antibodies).
Single Hjv(-)/(-) and double Hfe (show HFE Antibodies)(-)/(-)Hjv(-)/(-) mice exhibit comparable iron overload. Hfe (show HFE Antibodies) and Hjv regulate hepcidin (show HAMP Antibodies) via the same pathway.
Results show that HFE (show HFE Antibodies) may depend on HJV for hepcidin (show HAMP Antibodies) regulation. Residual hepcidin (show HAMP Antibodies) in the absence of HFE (show HFE Antibodies) suggests either the presence of an unknown regulator synergistic with HJV or that HJV is sufficient to maintain basal levels of hepcidin (show HAMP Antibodies).
Parenchymal hepatic iron overload does not suffice to trigger progression of liver steatosis to steatohepatitis or fibrosis in Hjv knockout C57BL/6 mice.
Hjv is not required for sensing of body iron levels and merely functions as an enhancer for iron signaling to hepcidin (show HAMP Antibodies).
data support an alternative mechanism for hepcidin (show HAMP Antibodies) regulation during zebrafish embryonic development, which is independent of hjv.
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.
RGM domain family member C
, hemochromatosis type 2 protein
, repulsive guidance molecule c
, hemochromatosis type 2 (juvenile)
, hemochromatosis type 2 protein homolog
, repulsive guidance molecule C
, hemochromatosis type 2 (juvenile) (human homolog)
, RGM-like protein