Recombinant Human Hemojuvelin (HFE2)

1. Urinary HJV differentiated patients with/without acute kidney injury (AKI), advanced AKI or composite outcome after surgery. PMID: 29386545
2. Soluble haemojuvelin levels seem to be associated with iron overload parameters and hepcidin levels in hepatitis C virus positive hemodialysis patients. PMID: 28130911
3. HJV increases hepcidin expression in cells transfected with mutant ALK2. Thus, although the BMP pathway is inhibited when normal MT2 cleaves HJV, in the presence of both ALK2wt and mutant ALK2, the heterozygosity for the inactive MT2I212T may leave enough membrane HJV to allow persistent hepcidin activation. PMID: 28476747
4. A novel homozygous mutation in HJV gene identified in an Arab patient with juvenile hemochromatosis and hepatocellular carcinoma. PMID: 28363629
5. HJV levels are low in NAFLD and even lower in iron overloaded NAFLD. PMID: 26405701
6. Data show that transmembrane serine protease TMPRSS6 cleaves both the heterodimeric and the full-length mutant hemojuvelin (m-HJV). PMID: 25704252
7. Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy. PMID: 24635876
8. 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. PMID: 25666510
9. Case Reports: juvenile hemochromatosis associated with simple heterozygosity for novel HJV mutations and unknown genetic factors. PMID: 25152992
10. suggesting that the homozygous mutation p.C321X in HJV is causative in the patient with hemochromatosis PMID: 25567873
11. In dialysis patients, hemojuvelin levels are significantly increased but obesity does not have an additional impact. PMID: 24356769
12. Membrane bound hemojuvelin (HJV) is associated with decreasing total kidney iron, secreting hepcidin, and promoting the degradation of ferroportin during acute kidney injury, whereas soluble HJV does the opposite. PMID: 23901875
13. Data show that Patients with iron-refractory iron-deficiency anemia with a mutation in the TMPRSS6 gene were found to have lower levels of circulating hemojuvelin than those in healthy patients. PMID: 20713458
14. The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation. PMID: 22728873
15. neogenin forms a ternary complex with both MT2 and HJV at the plasma membrane. The complex facilitates HJV cleavage by MT2, and release of the cleaved HJV from the cell occurs after a retrograde trafficking through the TGN/Golgi compartments. PMID: 22893705
16. sHJV is elevated in hemodialysis patients compared to non-dialysis CKD patients. There was no association between sHJV and eGFR (in the non-dialysis groups), suggesting that factors other than decreased renal clearance are responsible for high sHJV levels PMID: 22398782
17. Downregulation of hemojuvelin prevents inhibitory effects of bone morphogenetic proteins on iron metabolism in hepatocellular carcinoma. PMID: 21863061
18. possible involvement of hemojuvelin gene mutation in porphyria cutanea tarda PMID: 21088809
19. Case Report: Homozygous G320V mutation in the HJV gene causing juvenile hereditary haemochromatosis type A. PMID: 20593054
20. showed that it localizes to similar subcellular compartments as wild-type TMPRSS6 and binds HJV, but fails to auto-catalytically activate itself. PMID: 20704562
21. c/hemojuvelin is a broad spectrum bone morphogenetic protein (BMP) antagonist and inhibits both BMP2- and BMP6-mediated signaling and gene expression PMID: 20530805
22. In this review, HJV plays an essential role in the regulation of hepcidin expression, specifically in the iron-sensing pathway, although through unknown mechanisms. PMID: 19287179
23. Here we report the positional cloning of the locus associated with juvenile hemochromatosis and the identification of a new gene crucial to iron metabolism. PMID: 14647275
24. Various amino acid substitutions identified in hemochromatosis. PMID: 14982867
25. 17 different (16 novel) mutations of HJV, both at the homozygous and at the compound heterozygous state in juvenile hemochromatosis PMID: 14982873
26. compound heterozygous mutations in hemojuvelin may have a role in juvenile hemochromatosis PMID: 15138164
27. Hemochromatosis in a consanguineous family linked to a mutation in the recently identified HJV gene. PMID: 15315789
28. Human HJV mRNA expression was detected in the liver, heart, esophagus, pancreas, descending colon, ileocecum and skeletal muscle. Its role in regulating iron allocation could be extended to other tissues beyond the liver. PMID: 15590393
29. nonsense mutation (G66X) causes severe juvenile hemochromatosis with fatal cardiomyopathy PMID: 15611318
30. Juvenile hereditary hemochromatosis is not a distinct monogenic disorder invariably due to hemojuvelin or hepcidin mutations: it may be genetically linked to the adult-onset form of hereditary hemochromatosis. PMID: 15685557
31. hemojuvelin may have a role in juvenile hemochromatosis [letter, case report] PMID: 15710580
32. Hemojuvelin-induced increase in intracellular iron levels in human embryonic kidney 293 cells is dependent on the presence of neogenin in the cells, thus linking these two proteins to intracellular iron homeostasis PMID: 16103117
33. An HFE-independent pathway that seems to involve TFR2 and hemojuvelin can regulate HAMP expression under conditions of iron overload PMID: 16103673
34. Hjv & transferrin receptor type 2 were predominantly localized to the basolateral membrane domain of hepatocytes; localization of Hjv and TfR2 at the same membrane domain renders a functional interaction of these two proteins in iron homeostasis possible PMID: 16932966
35. The loss of HJV membrane export is central to the pathogenesis of juvenile hemochromatosis; HJV cleavage is essential for the export. PMID: 17264300
36. A novel R176C mutation in the juvenile hemochromatosis gene was found in exon 3. This substitution destabilizes a short helix made of the RSF residues (from 176 to 178). PMID: 17339196
37. Hemojuvelin missense mutation is associated with hemochromatosis. PMID: 17768121
38. interactive effect on serum ferritin level of rs235756 in BMP2 and a SNP in HJV, with a small additive effect of a SNP in BMP4 PMID: 17847004
39. s-hemojuvelin release is regulated by a proprotein convertase through the cleavage at a conserved polybasic RNRR site. PMID: 17869549
40. s-HJV originates from a furin cleavage at position 332-335 PMID: 17938254
41. results show that different isoforms of hemojuvlin may play unique physiological roles through defined interactions with distinct signaling proteins such as BMP2 and neogenin, and demonstrate that some of these interactions are defective. PMID: 18287331
42. HJV-mediated bone morphogenetic protein signaling and hepcidin regulation occur via a distinct subset of BMP ligands and BMP receptors, independently of neogenin PMID: 18326817
43. neogenin is part of a multiprotein complex at the hepatocyte membrane involving bone morphogenetic protein, its receptors, and hemojuvelin PMID: 18335997
44. neogenin-mediated HJV release occurs after the HJV-neogenin complex is internalized from the cell surface PMID: 18445598
45. The researchers identified a nonsense Q312X mutation in the hemojuvelin gene that increases ferritin levels and leads to juvenile hemochromatosis that is associated with severe cardiomyopathy. PMID: 18725184
46. Our results support a model in which retrograde trafficking of HJV before cleavage is the predominant processing pathway PMID: 19029439
47. The results suggest that the HJV-neogenin interaction is required for the BMP-mediated induction of hepcidin expression when HJV is expressed. PMID: 19564337

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HGNC: 4887

OMIM: 602390

KEGG: hsa:148738

STRING: 9606.ENSP00000337014

UniGene: Hs.632436