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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
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.
HJV levels are low in NAFLD and even lower in iron overloaded NAFLD.
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).
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 of the human HJV mRNA have the ability to significantly decrease translational efficiency under normal conditions.
Case Reports: juvenile hemochromatosis (zeige HFE Proteine) 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 (zeige HFE Proteine)
In dialysis patients, hemojuvelin levels are significantly increased but obesity does not have an additional impact.
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.
Data show that Patients with iron-refractory iron-deficiency anemia with a mutation in the TMPRSS6 (zeige TMPRSS6 Proteine) gene were found to have lower levels of circulating hemojuvelin than those in healthy patients.
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 (zeige HAMP Proteine) expression by hemojuvelin (HJV) requires its interaction with neogenin (zeige NEO1 Proteine).
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.
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).
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 (zeige HAMP Proteine).
Deletion of Hjv in mice leads to abnormal retinal angiogenesis/vasculogenesis, with proliferation of new, leaky blood vessels in the vitreous.
Loss of matriptase-2 (zeige TMPRSS6 Proteine) increases bone morphogenetic protein-dependent signaling, while paradoxically decreasing liver hemojuvelin protein content.
Use of proteomic analysis enables identification of four disulfide linkages in hemojuvelin/repulsive guidance molecule C. This molecule is a single-chain HJV/RGMc isoform.
we conclude that TNF-alpha (zeige TNF Proteine) suppresses Hemojuvelin(HJV) transcription possibly via a novel TNFRE within the HJV promoter
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.
hemochromatosis type 2 (juvenile)
, RGM domain family member C
, hemochromatosis type 2 protein
, repulsive guidance molecule c
, hemochromatosis type 2 (juvenile) (human homolog)
, hemochromatosis type 2 protein homolog
, repulsive guidance molecule C