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Human HFE2 ELISA Kit for Sandwich ELISA - ABIN415112
Rumjon, Sarafidis, Brincat, Musto, Malyszko, Bansal, Macdougall: Serum hemojuvelin and hepcidin levels in chronic kidney disease. in American journal of nephrology 2012
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Mouse (Murine) HFE2 ELISA Kit for Sandwich ELISA - ABIN415800
Krijt, Frýdlová, Kukačková, Fujikura, Přikryl, Vokurka, Nečas: Effect of iron overload and iron deficiency on liver hemojuvelin protein. in PLoS ONE 2012
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Of the non-HFE (显示 HFE ELISA试剂盒) forms of iron overload, TFR2 (显示 TFR2 ELISA试剂盒)-, HFE2-, and HAMP (显示 HAMP ELISA试剂盒)-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 ELISA试剂盒) variants that have been previously associated with autosomal-dominant ferroportin (显示 SLC40A1 ELISA试剂盒) 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 ELISA试剂盒) and hepatocellular carcinoma.
study shows that patients with CRA had high expression of BMP6 (显示 BMP6 ELISA试剂盒) and hepcidin (显示 HAMP ELISA试剂盒) and low expression of s-HJV. BMP6 (显示 BMP6 ELISA试剂盒) was found to be negatively correlated with s-HJV; both regulate hepcidin (显示 HAMP ELISA试剂盒) expression and play important roles in the development of anemia.
HJV levels are low in NAFLD (显示 TSC2 ELISA试剂盒) and even lower in iron overloaded NAFLD (显示 TSC2 ELISA试剂盒).
Data show that transmembrane serine protease (显示 F2 ELISA试剂盒) TMPRSS6 (显示 TMPRSS6 ELISA试剂盒) 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 ELISA试剂盒) of the human HJV mRNA have the ability to significantly decrease translational efficiency under normal conditions.
Case Reports: juvenile hemochromatosis (显示 HFE ELISA试剂盒) 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 ELISA试剂盒)
In dialysis patients, hemojuvelin levels are significantly increased but obesity does not have an additional impact.
Anti-hemojuvelin antibody corrects anemia caused by inappropriately high hepcidin (显示 HAMP ELISA试剂盒) levels
These data suggest that, in Hjv(-/-) females, Bmp6 (显示 BMP6 ELISA试剂盒) can provide a signal adequate to maintain hepcidin (显示 HAMP ELISA试剂盒) to a level sufficient to avoid extrahepatic iron loading.
The results provide support for the interaction between TMPRSS6 (显示 TMPRSS6 ELISA试剂盒) 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 ELISA试剂盒).
Hjv (--) and Hfe (显示 HFE ELISA试剂盒) (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 ELISA试剂盒) to disseminated infection with enteropathogenic Yersinia.
The data demonstrate that endothelial cells are the predominant source of BMP6 (显示 BMP6 ELISA试剂盒) in the liver and support a model in which endothelial cells BMP6 (显示 BMP6 ELISA试剂盒) has paracrine actions on hepatocyte hemojuvelin to regulate hepcidin (显示 HAMP ELISA试剂盒) 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 ELISA试剂盒) expression by hemojuvelin (HJV) requires its interaction with neogenin (显示 NEO1 ELISA试剂盒).
Single Hjv(-)/(-) and double Hfe (显示 HFE ELISA试剂盒)(-)/(-)Hjv(-)/(-) mice exhibit comparable iron overload. Hfe (显示 HFE ELISA试剂盒) and Hjv regulate hepcidin (显示 HAMP ELISA试剂盒) via the same pathway.
Results show that HFE (显示 HFE ELISA试剂盒) may depend on HJV for hepcidin (显示 HAMP ELISA试剂盒) regulation. Residual hepcidin (显示 HAMP ELISA试剂盒) in the absence of HFE (显示 HFE ELISA试剂盒) 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 ELISA试剂盒).
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 ELISA试剂盒) 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