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抗Human HFE2 抗体:
抗Mouse (Murine) HFE2 抗体:
抗Rat (Rattus) HFE2 抗体:
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
HJV increases hepcidin (显示 HAMP 抗体) expression in cells transfected with mutant ALK2 (显示 ACRV1 抗体). Thus, although the BMP pathway is inhibited when normal MT2 (显示 MT2 抗体) cleaves HJV, in the presence of both ALK2wt and mutant ALK2 (显示 ACRV1 抗体), the heterozygosity for the inactive MT2I212T may leave enough membrane HJV to allow persistent hepcidin (显示 HAMP 抗体) activation.
Of the non-HFE (显示 HFE 抗体) forms of iron overload, TFR2 (显示 TFR2 抗体)-, HFE2-, and HAMP (显示 HAMP 抗体)-related forms are predicted to be rare, with pathogenic allele frequencies in the range of 0.00007 to 0.0005. Significantly, SLC40A1 (显示 SLC40A1 抗体) variants that have been previously associated with autosomal-dominant ferroportin (显示 SLC40A1 抗体) 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 (显示 HFE 抗体) and hepatocellular carcinoma.
study shows that patients with CRA (显示 MTMR11 抗体) had high expression of BMP6 (显示 BMP6 抗体) and hepcidin (显示 HAMP 抗体) and low expression of s-HJV. BMP6 (显示 BMP6 抗体) was found to be negatively correlated with s-HJV; both regulate hepcidin (显示 HAMP 抗体) expression and play important roles in the development of anemia.
HJV levels are low in NAFLD (显示 TSC2 抗体) and even lower in iron overloaded NAFLD (显示 TSC2 抗体).
Data show that transmembrane serine protease (显示 F2 抗体) TMPRSS6 (显示 TMPRSS6 抗体) 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 (显示 UTS2R 抗体) of the human HJV mRNA have the ability to significantly decrease translational efficiency under normal conditions.
Case Reports: juvenile hemochromatosis (显示 HFE 抗体) 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 (显示 HFE 抗体)
Anti-hemojuvelin antibody corrects anemia caused by inappropriately high hepcidin (显示 HAMP 抗体) levels
These data suggest that, in Hjv(-/-) females, Bmp6 (显示 BMP6 抗体) can provide a signal adequate to maintain hepcidin (显示 HAMP 抗体) to a level sufficient to avoid extrahepatic iron loading.
The results provide support for the interaction between TMPRSS6 (显示 TMPRSS6 抗体) and hemojuvelin in vivo; they also suggest that hemojuvelin could be cleaved by another as yet unknown protease in the absence of functional TMPRSS6 (显示 TMPRSS6 抗体).
Hjv (--) and Hfe (显示 HFE 抗体) (C282YC282Y) transgenic mice displayed enhanced colonization of deep tissues by Yersinia pseudotuberculosis following oral inoculation, recapitulating enhanced susceptibility of humans with hemochromatosis (显示 HFE 抗体) to disseminated infection with enteropathogenic Yersinia.
The data demonstrate that endothelial cells are the predominant source of BMP6 (显示 BMP6 抗体) in the liver and support a model in which endothelial cells BMP6 (显示 BMP6 抗体) has paracrine actions on hepatocyte hemojuvelin to regulate hepcidin (显示 HAMP 抗体) 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 (显示 HAMP 抗体) expression by hemojuvelin (HJV) requires its interaction with neogenin (显示 NEO1 抗体).
Single Hjv(-)/(-) and double Hfe (显示 HFE 抗体)(-)/(-)Hjv(-)/(-) mice exhibit comparable iron overload. Hfe (显示 HFE 抗体) and Hjv regulate hepcidin (显示 HAMP 抗体) via the same pathway.
Results show that HFE (显示 HFE 抗体) may depend on HJV for hepcidin (显示 HAMP 抗体) regulation. Residual hepcidin (显示 HAMP 抗体) in the absence of HFE (显示 HFE 抗体) suggests either the presence of an unknown regulator synergistic with HJV or that HJV is sufficient to maintain basal levels of hepcidin (显示 HAMP 抗体).
Parenchymal hepatic iron overload does not suffice to trigger progression of liver steatosis to steatohepatitis or fibrosis in Hjv knockout C57BL/6 mice.
data support an alternative mechanism for hepcidin (显示 HAMP 抗体) 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