Hemojuvelin (HJV)
[Edit]HFE2; HFE2A; HJV; JH; RGMC; hemochromatosis type 2(Juvenile); Haemojuvelin; RGM domain family member C
-91995.jpg)
Hemojuvelin is transcribed from a gene of 4,265 bp into a full-length transcript with 5 spliced isoforms. The putative full-length protein from the longest transcript is 426 amino acids. Hemojuvelin contains multiple protein motifs consistent with a function as a membrane-bound receptor or secreted polypeptide hormone.
Intraperitoneal injection of BMP6 in mice caused increased hepatic hepcidin mRNA expression and reduced serum iron and transferrin saturation in a dose-dependent manner. Conversely, inhibition of endogenous Bmp6 in mice reduced hepcidin expression and increased serum iron. Andriopoulos et al. (2009) concluded that BMP6 is an HJV ligand and an endogenous regulator of hepcidin expression and iron metabolism.
Organism species: Homo sapiens (Human)
Organism species: Mus musculus (Mouse)
| CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
| Proteins | RPB995Mu01 | Recombinant Hemojuvelin (HJV) | Positive Control; Immunogen; SDS-PAGE; WB. |
| RPB995Mu02 | Recombinant Hemojuvelin (HJV) | Positive Control; Immunogen; SDS-PAGE; WB. | |
| Antibodies | PAB995Mu01 | Polyclonal Antibody to Hemojuvelin (HJV) | WB; IHC; ICC; IP. |
| PAB995Mu02 | Polyclonal Antibody to Hemojuvelin (HJV) | WB; IHC; ICC; IP. | |
| Assay Kits | SEB995Mu | ELISA Kit for Hemojuvelin (HJV) | Enzyme-linked immunosorbent assay for Antigen Detection. |
Organism species: Rattus norvegicus (Rat)
| CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
| Proteins | RPB995Ra01 | Recombinant Hemojuvelin (HJV) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | PAB995Ra01 | Polyclonal Antibody to Hemojuvelin (HJV) | WB; IHC; ICC; IP. |
| MAB995Ra21 | Monoclonal Antibody to Hemojuvelin (HJV) | WB; IHC; ICC; IP. | |
| Assay Kits | SEB995Ra | ELISA Kit for Hemojuvelin (HJV) | Enzyme-linked immunosorbent assay for Antigen Detection. |
- "Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis." Nat. Genet. 36:77-82(2004) [PubMed] [Europe PMC] [Abstract]
- "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
- "The DNA sequence and biological annotation of human chromosome 1." Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
- "Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression."Nat. Genet. 38:531-539(2006) [PubMed] [Europe PMC] [Abstract]
- "Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia."Blood 113:5605-5608(2009) [PubMed] [Europe PMC] [Abstract]
- "Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies."Hum. Mutat. 35:1321-1329(2014) [PubMed] [Europe PMC] [Abstract]
- "Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis."Blood 103:4317-4321(2004) [PubMed] [Europe PMC] [Abstract]
- "Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin."Blood 103:4669-4671(2004) [PubMed] [Europe PMC] [Abstract]
- "Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis."Br. J. Haematol. 127:224-229(2004) [PubMed] [Europe PMC] [Abstract]